Canonical Allele Identifier: CA390747835

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968383C>T , CM000676.2:g.87968383C>T	GRCh38
NC_000014.8:g.88434727C>T , CM000676.1:g.88434727C>T	GRCh37
NC_000014.7:g.87504480C>T	NCBI36
NG_011853.2:g.30181G>A
NG_011853.3:g.30181G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.860G>A MANE Select	NP_000144.2:p.Cys287Tyr
ENST00000261304.7:c.860G>A MANE Select	ENSP00000261304.2:p.Cys287Tyr
NM_000153.3:c.860G>A	NP_000144.2:p.Cys287Tyr
NM_001201401.1:c.791G>A	NP_001188330.1:p.Cys264Tyr
NM_001201401.2:c.791G>A	NP_001188330.1:p.Cys264Tyr
NM_001201402.1:c.782G>A	NP_001188331.1:p.Cys261Tyr
NM_001201402.2:c.782G>A	NP_001188331.1:p.Cys261Tyr
ENST00000261304.6:c.860G>A	ENSP00000261304.2:p.Cys287Tyr
ENST00000393568.8:c.791G>A	ENSP00000377198.4:p.Cys264Tyr
ENST00000393569.6:c.782G>A	ENSP00000377199.2:p.Cys261Tyr
ENST00000474294.6:n.850G>A
ENST00000544807.6:c.692G>A	ENSP00000437513.2:p.Cys231Tyr
ENST00000555000.5:c.227G>A	ENSP00000450472.1:p.Cys76Tyr
ENST00000557316.5:c.*258G>A	ENSP00000452314.1:n.*258G>A
ENST00000622264.4:c.850G>A
XM_011536618.1:c.692G>A	XP_011534920.1:p.Cys231Tyr
XM_011536618.2:c.692G>A	XP_011534920.1:p.Cys231Tyr