Canonical Allele Identifier: CA390752550

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986539C>T , CM000676.2:g.87986539C>T	GRCh38
NC_000014.8:g.88452883C>T , CM000676.1:g.88452883C>T	GRCh37
NC_000014.7:g.87522636C>T	NCBI36
NG_011853.2:g.12025G>A
NG_011853.3:g.12025G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.392G>A MANE Select	NP_000144.2:p.Trp131Ter
ENST00000261304.7:c.392G>A MANE Select	ENSP00000261304.2:p.Trp131Ter
NM_000153.3:c.392G>A	NP_000144.2:p.Trp131Ter
NM_001201401.1:c.323G>A	NP_001188330.1:p.Trp108Ter
NM_001201401.2:c.323G>A	NP_001188330.1:p.Trp108Ter
NM_001201402.1:c.314G>A	NP_001188331.1:p.Trp105Ter
NM_001201402.2:c.314G>A	NP_001188331.1:p.Trp105Ter
ENST00000261304.6:c.392G>A	ENSP00000261304.2:p.Trp131Ter
ENST00000393568.8:c.323G>A	ENSP00000377198.4:p.Trp108Ter
ENST00000393569.6:c.314G>A	ENSP00000377199.2:p.Trp105Ter
ENST00000474294.6:n.382G>A
ENST00000544807.6:c.224G>A	ENSP00000437513.2:p.Trp75Ter
ENST00000554372.5:c.*141G>A	ENSP00000451884.1:n.*141G>A
ENST00000554916.5:n.271G>A
ENST00000556261.5:n.93G>A
ENST00000556879.5:c.452G>A	ENSP00000452208.1:n.452G>A
ENST00000557316.5:c.392G>A	ENSP00000452314.1:p.Trp131Ter
ENST00000622264.4:c.382G>A
XM_011536618.1:c.224G>A	XP_011534920.1:p.Trp75Ter
XM_011536618.2:c.224G>A	XP_011534920.1:p.Trp75Ter