Canonical Allele Identifier: CA7297400

Gene: GALC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986543C>G , CM000676.2:g.87986543C>G	GRCh38
NC_000014.8:g.88452887C>G , CM000676.1:g.88452887C>G	GRCh37
NC_000014.7:g.87522640C>G	NCBI36
NG_011853.2:g.12021G>C
NG_011853.3:g.12021G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.388G>C MANE Select	ENSP00000261304.2:p.Glu130Gln
ENST00000261304.6:c.388G>C	ENSP00000261304.2:p.Glu130Gln
ENST00000393568.8:c.319G>C	ENSP00000377198.4:p.Glu107Gln
ENST00000393569.6:c.310G>C	ENSP00000377199.2:p.Glu104Gln
ENST00000474294.6:n.378G>C
ENST00000544807.6:c.220G>C	ENSP00000437513.2:p.Glu74Gln
ENST00000554372.5:c.*137G>C	ENSP00000451884.1:n.*137G>C
ENST00000554916.5:n.267G>C
ENST00000556261.5:n.89G>C
ENST00000556879.5:c.448G>C	ENSP00000452208.1:n.448G>C
ENST00000557316.5:c.388G>C	ENSP00000452314.1:p.Glu130Gln
ENST00000622264.4:c.378G>C
NM_000153.3:c.388G>C	NP_000144.2:p.Glu130Gln
NM_001201401.1:c.319G>C	NP_001188330.1:p.Glu107Gln
NM_001201402.1:c.310G>C	NP_001188331.1:p.Glu104Gln
XM_011536618.1:c.220G>C	XP_011534920.1:p.Glu74Gln
XM_011536618.2:c.220G>C	XP_011534920.1:p.Glu74Gln
NM_000153.4:c.388G>C MANE Select	NP_000144.2:p.Glu130Gln
NM_001201401.2:c.319G>C	NP_001188330.1:p.Glu107Gln
NM_001201402.2:c.310G>C	NP_001188331.1:p.Glu104Gln