ENST00000544807.6 GALC

Information
Transcript ID
ENST00000544807.6
Genome
hg19
Position
chr14:88,400,067-88,459,182
Strand
-
CDS length
1,770
Amino acid length
590
Gene symbol
GALC
Gene type
protein-coding
Gene description
galactosylceramidase
Gene Entrez Gene ID
2581
Variants

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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
17 88,400,067 88,400,343
16 88,406,249 88,406,325
15 88,407,739 88,407,902
14 88,411,897 88,412,077
13 88,414,072 88,414,222
12 88,416,189 88,416,275
11 88,417,003 88,417,092
10 88,429,728 88,429,855
9 88,431,849 88,431,973
8 88,434,679 88,434,834
7 88,442,702 88,442,832
6 88,448,549 88,448,587
5 88,450,738 88,450,877
4 88,452,833 88,452,946
3 88,454,488 88,454,551
2 88,454,799 88,454,867
1 88,458,648 88,459,182
CDS
Exon number Type Start Stop
17 CDS 88,400,317 88,400,343
16 CDS 88,406,249 88,406,325
15 CDS 88,407,739 88,407,902
14 CDS 88,411,897 88,412,077
13 CDS 88,414,072 88,414,222
12 CDS 88,416,189 88,416,275
11 CDS 88,417,003 88,417,092
10 CDS 88,429,728 88,429,855
9 CDS 88,431,849 88,431,973
8 CDS 88,434,679 88,434,834
7 CDS 88,442,702 88,442,832
6 CDS 88,448,549 88,448,587
5 CDS 88,450,738 88,450,877
4 CDS 88,452,833 88,452,946
3 CDS 88,454,488 88,454,551
2 CDS 88,454,799 88,454,867
1 CDS 88,458,648 88,458,674
Other genome
Genome Chromosome Start End Links
hg38 chr14 87,933,723 87,992,838 Link
CDS sequence
ATGGGCTTCATGGTGGCCGACCTTTGGGCAACCTCCCGACTTCTAGTAAATTACCCAGAGCCCTATCGTTCTCAGATATTGGATTATCTCTTTAAGCCGAATTTTGGTGCCTCTTTGCATATTTTAAAAGTGGAAATAGGTGGTGATGGGCAGACAACAGACGGCACTGAGCCCTCCCACATGCATTATGCACTAGATGAGAATTATTTCCGAGGATACGAGTGGTGGTTGATGAAAGAAGCTAAGAAGAGGAATCCCAATATTACACTCATTGGGTTGCCATGGTCATTCCCTGGATGGCTGGGAAAAGGTTTCGACTGGCCTTATGTCAATCTTCAGCTGACTGCCTATTATGTCGTGACCTGGATTGTGGGCGCCAAGCGTTACCATGATTTGGACATTGATTATATTGGAATTTGGAATGAGAGGTCATATAATGCCAATTATATTAAGATATTAAGAAAAATGCTGAATTATCAAGGTCTCCAGCGAGTGAAAATCATAGCAAGTGATAATCTCTGGGAGTCCATCTCTGCATCCATGCTCCTTGATGCCGAACTCTTCAAGGTGGTTGATGTTATAGGGGCTCATTATCCTGGAACCCATTCAGCAAAAGATGCAAAGTTGACTGGGAAGAAGCTTTGGTCTTCTGAAGACTTTAGCACTTTAAATAGTGACATGGGTGCAGGCTGCTGGGGTCGCATTTTAAATCAGAATTATATCAATGGCTATATGACTTCCACAATCGCATGGAATTTAGTGGCTAGTTACTATGAACAGTTGCCTTATGGGAGATGCGGGTTGATGACGGCCCAGGAGCCATGGAGTGGGCACTACGTGGTAGAATCTCCTGTCTGGGTATCAGCTCATACCACTCAGTTTACTCAACCTGGCTGGTATTACCTGAAGACAGTTGGCCATTTAGAGAAAGGAGGAAGCTACGTAGCTCTGACTGATGGCTTAGGGAACCTCACCATCATCATTGAAACCATGAGTCATAAACATTCTAAGTGCATACGGCCATTTCTTCCTTATTTCAATGTGTCACAACAATTTGCCACCTTTGTTCTTAAGGGATCTTTTAGTGAAATACCAGAGCTACAGGTATGGTATACCAAACTTGGAAAAACATCCGAAAGATTTCTTTTTAAGCAGCTGGATTCTCTATGGCTCCTTGACAGCGATGGCAGTTTCACACTGAGCCTGCATGAAGATGAGCTGTTCACACTCACCACTCTCACCACTGGTCGCAAAGGCAGCTACCCGCTTCCTCCAAAATCCCAGCCCTTCCCAAGTACCTATAAGGATGATTTCAATGTTGATTACCCATTTTTTAGTGAAGCTCCAAACTTTGCTGATCAAACTGGTGTATTTGAATATTTTACAAATATTGAAGACCCTGGCGAGCATCACTTCACGCTACGCCAAGTTCTCAACCAGAGACCCATTACATGGGCTGCCGATGCATCCAACACAATCAGTATTATAGGAGACTACAACTGGACCAATCTGACTATAAAGTGTGATGTATACATAGAGACCCCTGACACAGGAGGTGTGTTCATTGCAGGAAGAGTAAATAAAGGTGGTATTTTGATTAGAAGTGCCAGAGGAATTTTCTTCTGGATTTTTGCAAATGGATCTTACAGGGTTACAGGTGATTTAGCTGGATGGATTATATATGCTTTAGGACGTGTTGAAGTTACAGCAAAAAAATGGTATACACTCACGTTAACTATTAAGGTGGCTGGAAGAAGGAAGAAAACCTGA
Amino sequence
MGFMVADLWATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKVAGRRKKT*