ENST00000482918.5 IAH1

Information
Transcript ID
ENST00000482918.5
Genome
hg19
Position
chr2:9,613,947-9,628,573
Strand
+
CDS length
408
Amino acid length
136
Gene symbol
IAH1
Gene type
protein-coding
Gene description
isoamyl acetate hydrolyzing esterase 1 (putative)
Gene Entrez Gene ID
285148
Variants

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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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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
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Target data :
MGeND data only
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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
1 9,613,947 9,614,028
2 9,616,116 9,616,168
3 9,618,351 9,618,499
4 9,621,415 9,621,576
5 9,624,561 9,624,679
6 9,628,276 9,628,573
CDS
Exon number Type Start Stop
4 CDS 9,621,471 9,621,576
5 CDS 9,624,561 9,624,679
6 CDS 9,628,276 9,628,458
Other genome
Genome Chromosome Start End Links
hg38 chr2 9,473,818 9,488,444 Link
CDS sequence
ATGGTGCAGTACCTGAAGTCCGTGGACATCCCTGAGAATCGAGTCATTCTCATCACGCCGACCCCACTTTGTGAAACAGCCTGGGAAGAACAGTGCATCATACAAGGTTGCAAACTAAATCGCCTGAACTCTGTTGTTGGTGAATATGCCAATGCGTGTTTACAAGTGGCCCAAGACTGTGGGACTGACGTACTTGACCTGTGGACCCTGATGCAGGACAGCCAGGACTTCTCATCTTATTTATCAGATGGACTACATTTGTCTCCAAAGGGGAATGAATTTTTGTTCTCGCATCTCTGGCCTTTGATAGAGAAAAAGGTCTCTTCTCTACCTTTGCTGCTTCCTTACTGGCGGGATGTAGCAGAAGCAAAACCTGAATTAAGTCTGCTGGGAGATGGAGACCATTAG
Amino sequence
MVQYLKSVDIPENRVILITPTPLCETAWEEQCIIQGCKLNRLNSVVGEYANACLQVAQDCGTDVLDLWTLMQDSQDFSSYLSDGLHLSPKGNEFLFSHLWPLIEKKVSSLPLLLPYWRDVAEAKPELSLLGDGDH*