GLA galactosidase alpha

Information
Symbol
GLA
Type
protein-coding
Description
galactosidase alpha
Entrez Gene ID
2717
Genome
hg19
Position
chrX:100,652,791-100,662,913
Genome
hg38
Position
chrX:101,397,803-101,407,925
MIM
300644 OMIM
HGNC
HGNC:4296 HGNC
Ensembl
ENSG00000102393 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1,228 594
Likely pathogenic 4 356
Benign 2 66
Likely benign 0 388
Conflicting classifications of pathogenicity 0 156
Conflicting classifications of pathogenicity; other 0 2
Likely pathogenic; drug response 0 8
no classification for the single variant 0 6
not provided 7 0
Pathogenic; drug response 0 30
Uncertain significance 4 544
Uncertain significance; drug response 0 8
Ranking
ClinVar
0
0
628
1,130
102
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 :
Search word :
Filtering :
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
TypeID
SYNONYM GALA
MIM 300644 OMIM
HGNC HGNC:4296 HGNC
Ensembl ENSG00000102393 Ensembl
AllianceGenome HGNC:4296
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000676156.1 hg38 chrX 101,397,809 101,407,903 10,095
ENST00000674634.2 hg38 chrX 101,398,280 101,407,903 9,624
ENST00000649178.1 hg38 chrX 101,397,807 101,407,912 10,106
ENST00000675592.1 hg38 chrX 101,397,809 101,407,903 10,095
ENST00000218516.4 hg38 chrX 101,397,803 101,407,925 10,123
ENST00000710365.1 hg38 chrX 101,397,453 101,407,925 10,473
ENST00000218516.4 hg19 chrX 100,652,791 100,662,913 10,123
ENST00000649178.1 hg19 chrX 100,652,795 100,662,900 10,106
ENST00000674634.2 hg19 chrX 100,653,268 100,662,891 9,624
ENST00000676156.1 hg19 chrX 100,652,797 100,662,891 10,095
ENST00000675592.1 hg19 chrX 100,652,797 100,662,891 10,095
ENST00000710365.1 hg19 chrX 100,652,441 100,662,913 10,473
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