Canonical Allele Identifier: CA390746917

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87950666C>T , CM000676.2:g.87950666C>T	GRCh38
NC_000014.8:g.88417010C>T , CM000676.1:g.88417010C>T	GRCh37
NC_000014.7:g.87486763C>T	NCBI36
NG_011853.2:g.47898G>A
NG_011853.3:g.47898G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1244G>A MANE Select	NP_000144.2:p.Gly415Glu
ENST00000261304.7:c.1244G>A MANE Select	ENSP00000261304.2:p.Gly415Glu
NM_000153.3:c.1244G>A	NP_000144.2:p.Gly415Glu
NM_001201401.1:c.1175G>A	NP_001188330.1:p.Gly392Glu
NM_001201401.2:c.1175G>A	NP_001188330.1:p.Gly392Glu
NM_001201402.1:c.1166G>A	NP_001188331.1:p.Gly389Glu
NM_001201402.2:c.1166G>A	NP_001188331.1:p.Gly389Glu
ENST00000261304.6:c.1244G>A	ENSP00000261304.2:p.Gly415Glu
ENST00000393568.8:c.1175G>A	ENSP00000377198.4:p.Gly392Glu
ENST00000393569.6:c.1166G>A	ENSP00000377199.2:p.Gly389Glu
ENST00000544807.6:c.1076G>A	ENSP00000437513.2:p.Gly359Glu
ENST00000555000.5:c.611G>A	ENSP00000450472.1:p.Gly204Glu
ENST00000557316.5:c.*642G>A	ENSP00000452314.1:n.*642G>A
XM_011536618.1:c.1076G>A	XP_011534920.1:p.Gly359Glu
XM_011536618.2:c.1076G>A	XP_011534920.1:p.Gly359Glu