Canonical Allele Identifier: CA390752600

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452893C>T (hg19) ; chr14:g.87986549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986549C>T , CM000676.2:g.87986549C>T	GRCh38
NC_000014.8:g.88452893C>T , CM000676.1:g.88452893C>T	GRCh37
NC_000014.7:g.87522646C>T	NCBI36
NG_011853.2:g.12015G>A
NG_011853.3:g.12015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.382G>A MANE Select	ENSP00000261304.2:p.Gly128Arg
ENST00000261304.6:c.382G>A	ENSP00000261304.2:p.Gly128Arg
ENST00000393568.8:c.313G>A	ENSP00000377198.4:p.Gly105Arg
ENST00000393569.6:c.304G>A	ENSP00000377199.2:p.Gly102Arg
ENST00000474294.6:n.372G>A
ENST00000544807.6:c.214G>A	ENSP00000437513.2:p.Gly72Arg
ENST00000554372.5:c.*131G>A	ENSP00000451884.1:n.*131G>A
ENST00000554916.5:n.261G>A
ENST00000556261.5:n.83G>A
ENST00000556879.5:c.442G>A	ENSP00000452208.1:n.442G>A
ENST00000557316.5:c.382G>A	ENSP00000452314.1:p.Gly128Arg
ENST00000622264.4:c.372G>A
NM_000153.3:c.382G>A	NP_000144.2:p.Gly128Arg
NM_001201401.1:c.313G>A	NP_001188330.1:p.Gly105Arg
NM_001201402.1:c.304G>A	NP_001188331.1:p.Gly102Arg
XM_011536618.1:c.214G>A	XP_011534920.1:p.Gly72Arg
XM_011536618.2:c.214G>A	XP_011534920.1:p.Gly72Arg
NM_000153.4:c.382G>A MANE Select	NP_000144.2:p.Gly128Arg
NM_001201401.2:c.313G>A	NP_001188330.1:p.Gly105Arg
NM_001201402.2:c.304G>A	NP_001188331.1:p.Gly102Arg