Canonical Allele Identifier: CA274898
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 193054
dbSNP Id: rs11623

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87992996C>T , CM000676.2:g.87992996C>T GRCh38
NC_000014.8:g.88459340C>T , CM000676.1:g.88459340C>T GRCh37
NC_000014.7:g.87529093C>T NCBI36
NG_011853.2:g.5568G>A
NG_011853.3:g.5568G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.169G>A MANE Select ENSP00000261304.2:p.Gly57Ser
ENST00000261304.6:c.169G>A ENSP00000261304.2:p.Gly57Ser
ENST00000393568.8:c.169G>A ENSP00000377198.4:p.Gly57Ser
ENST00000393569.6:c.117+387G>A ENSP00000377199.2:n.117+387G>A
ENST00000474294.6:n.159G>A
ENST00000554372.5:c.169G>A ENSP00000451884.1:p.Gly57Ser
ENST00000556879.5:c.127G>A ENSP00000452208.1:p.Gly43Ser
ENST00000557316.5:c.169G>A ENSP00000452314.1:p.Gly57Ser
ENST00000622264.4:c.159G>A
NM_000153.3:c.169G>A NP_000144.2:p.Gly57Ser
NM_001201401.1:c.169G>A NP_001188330.1:p.Gly57Ser
NM_001201402.1:c.117+387G>A NP_001188331.1:n.117+387G>A
NM_000153.4:c.169G>A MANE Select NP_000144.2:p.Gly57Ser
NM_001201401.2:c.169G>A NP_001188330.1:p.Gly57Ser
NM_001201402.2:c.117+387G>A NP_001188331.1:n.117+387G>A