Canonical Allele Identifier: CA264711073
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 972207
ClinVar RCV Id: RCV001248182
dbSNP Id: rs963756824

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87984395C>G , CM000676.2:g.87984395C>G GRCh38
NC_000014.8:g.88450739C>G , CM000676.1:g.88450739C>G GRCh37
NC_000014.7:g.87520492C>G NCBI36
NG_011853.2:g.14169G>C
NG_011853.3:g.14169G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.581G>C MANE Select ENSP00000261304.2:p.Gly194Ala
ENST00000261304.6:c.581G>C ENSP00000261304.2:p.Gly194Ala
ENST00000393568.8:c.512G>C ENSP00000377198.4:p.Gly171Ala
ENST00000393569.6:c.503G>C ENSP00000377199.2:p.Gly168Ala
ENST00000474294.6:n.571G>C
ENST00000544807.6:c.413G>C ENSP00000437513.2:p.Gly138Ala
ENST00000554372.5:c.*330G>C ENSP00000451884.1:n.*330G>C
ENST00000554916.5:n.460G>C
ENST00000556261.5:n.282G>C
ENST00000557316.5:c.581G>C ENSP00000452314.1:p.Gly194Ala
ENST00000622264.4:c.571G>C
NM_000153.3:c.581G>C NP_000144.2:p.Gly194Ala
NM_001201401.1:c.512G>C NP_001188330.1:p.Gly171Ala
NM_001201402.1:c.503G>C NP_001188331.1:p.Gly168Ala
XM_011536618.1:c.413G>C XP_011534920.1:p.Gly138Ala
XM_011536618.2:c.413G>C XP_011534920.1:p.Gly138Ala
NM_000153.4:c.581G>C MANE Select NP_000144.2:p.Gly194Ala
NM_001201401.2:c.512G>C NP_001188330.1:p.Gly171Ala
NM_001201402.2:c.503G>C NP_001188331.1:p.Gly168Ala