Canonical Allele Identifier: CA390747235

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963443C>A , CM000676.2:g.87963443C>A	GRCh38
NC_000014.8:g.88429787C>A , CM000676.1:g.88429787C>A	GRCh37
NC_000014.7:g.87499540C>A	NCBI36
NG_011853.2:g.35121G>T
NG_011853.3:g.35121G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1102G>T MANE Select	NP_000144.2:p.Gly368Ter
ENST00000261304.7:c.1102G>T MANE Select	ENSP00000261304.2:p.Gly368Ter
NM_000153.3:c.1102G>T	NP_000144.2:p.Gly368Ter
NM_001201401.1:c.1033G>T	NP_001188330.1:p.Gly345Ter
NM_001201401.2:c.1033G>T	NP_001188330.1:p.Gly345Ter
NM_001201402.1:c.1024G>T	NP_001188331.1:p.Gly342Ter
NM_001201402.2:c.1024G>T	NP_001188331.1:p.Gly342Ter
ENST00000261304.6:c.1102G>T	ENSP00000261304.2:p.Gly368Ter
ENST00000393568.8:c.1033G>T	ENSP00000377198.4:p.Gly345Ter
ENST00000393569.6:c.1024G>T	ENSP00000377199.2:p.Gly342Ter
ENST00000474294.6:n.1092G>T
ENST00000544807.6:c.934G>T	ENSP00000437513.2:p.Gly312Ter
ENST00000555000.5:c.469G>T	ENSP00000450472.1:p.Gly157Ter
ENST00000557316.5:c.*500G>T	ENSP00000452314.1:n.*500G>T
ENST00000557520.1:n.188G>T
ENST00000622264.4:c.1092G>T
XM_011536618.1:c.934G>T	XP_011534920.1:p.Gly312Ter
XM_011536618.2:c.934G>T	XP_011534920.1:p.Gly312Ter