Canonical Allele Identifier: CA2153358747

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947729A= , CM000676.2:g.87947729A=	GRCh38
NC_000014.8:g.88414073A= , CM000676.1:g.88414073A=	GRCh37
NC_000014.7:g.87483826A=	NCBI36
NG_011853.2:g.50835T=
NG_011853.3:g.50835T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1488T= MANE Select	ENSP00000261304.2:p.Val496=
ENST00000261304.6:c.1488T=	ENSP00000261304.2:p.Val496=
ENST00000393568.8:c.1419T=	ENSP00000377198.4:p.Val473=
ENST00000393569.6:c.1410T=	ENSP00000377199.2:p.Val470=
ENST00000544807.6:c.1320T=	ENSP00000437513.2:p.Val440=
ENST00000555000.5:c.855T=	ENSP00000450472.1:p.Val285=
ENST00000555179.1:c.205T=
ENST00000557316.5:c.*886T=	ENSP00000452314.1:n.*886T=
NM_000153.3:c.1488T=	NP_000144.2:p.Val496=
NM_001201401.1:c.1419T=	NP_001188330.1:p.Val473=
NM_001201402.1:c.1410T=	NP_001188331.1:p.Val470=
XM_011536618.1:c.1320T=	XP_011534920.1:p.Val440=
XM_011536618.2:c.1320T=	XP_011534920.1:p.Val440=
NM_000153.4:c.1488T= MANE Select	NP_000144.2:p.Val496=
NM_001201401.2:c.1419T=	NP_001188330.1:p.Val473=
NM_001201402.2:c.1410T=	NP_001188331.1:p.Val470=