Canonical Allele Identifier: CA390751785
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2994905
ClinVar RCV Id: RCV003858528
dbSNP Id: rs1182199981
gnomAD v3: 14-87984488-C-T
gnomAD v4: 14-87984488-C-T
MyVariant Identifiers: chr14:g.88450832C>T (hg19) chr14:g.87984488C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87984488C>T , CM000676.2:g.87984488C>T GRCh38
NC_000014.8:g.88450832C>T , CM000676.1:g.88450832C>T GRCh37
NC_000014.7:g.87520585C>T NCBI36
NG_011853.2:g.14076G>A
NG_011853.3:g.14076G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.488G>A MANE Select ENSP00000261304.2:p.Trp163Ter
ENST00000261304.6:c.488G>A ENSP00000261304.2:p.Trp163Ter
ENST00000393568.8:c.419G>A ENSP00000377198.4:p.Trp140Ter
ENST00000393569.6:c.410G>A ENSP00000377199.2:p.Trp137Ter
ENST00000474294.6:n.478G>A
ENST00000544807.6:c.320G>A ENSP00000437513.2:p.Trp107Ter
ENST00000554372.5:c.*237G>A ENSP00000451884.1:n.*237G>A
ENST00000554916.5:n.367G>A
ENST00000556261.5:n.189G>A
ENST00000556879.5:c.548G>A ENSP00000452208.1:n.548G>A
ENST00000557316.5:c.488G>A ENSP00000452314.1:p.Trp163Ter
ENST00000622264.4:c.478G>A
NM_000153.3:c.488G>A NP_000144.2:p.Trp163Ter
NM_001201401.1:c.419G>A NP_001188330.1:p.Trp140Ter
NM_001201402.1:c.410G>A NP_001188331.1:p.Trp137Ter
XM_011536618.1:c.320G>A XP_011534920.1:p.Trp107Ter
XM_011536618.2:c.320G>A XP_011534920.1:p.Trp107Ter
NM_000153.4:c.488G>A MANE Select NP_000144.2:p.Trp163Ter
NM_001201401.2:c.419G>A NP_001188330.1:p.Trp140Ter
NM_001201402.2:c.410G>A NP_001188331.1:p.Trp137Ter
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