Canonical Allele Identifier: CA2153381796

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976447C= , CM000676.2:g.87976447C=	GRCh38
NC_000014.8:g.88442791C= , CM000676.1:g.88442791C=	GRCh37
NC_000014.7:g.87512544C=	NCBI36
NG_011853.2:g.22117G=
NG_011853.3:g.22117G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.663G= MANE Select	ENSP00000261304.2:p.Val221=
ENST00000261304.6:c.663G=	ENSP00000261304.2:p.Val221=
ENST00000393568.8:c.594G=	ENSP00000377198.4:p.Val198=
ENST00000393569.6:c.585G=	ENSP00000377199.2:p.Val195=
ENST00000474294.6:n.653G=
ENST00000477716.3:n.418G=
ENST00000544807.6:c.495G=	ENSP00000437513.2:p.Val165=
ENST00000554916.5:n.542G=
ENST00000555000.5:c.30G=	ENSP00000450472.1:p.Val10=
ENST00000557316.5:c.*61G=	ENSP00000452314.1:n.*61G=
ENST00000622264.4:c.653G=
NM_000153.3:c.663G=	NP_000144.2:p.Val221=
NM_001201401.1:c.594G=	NP_001188330.1:p.Val198=
NM_001201402.1:c.585G=	NP_001188331.1:p.Val195=
XM_011536618.1:c.495G=	XP_011534920.1:p.Val165=
XM_011536618.2:c.495G=	XP_011534920.1:p.Val165=
NM_000153.4:c.663G= MANE Select	NP_000144.2:p.Val221=
NM_001201401.2:c.594G=	NP_001188330.1:p.Val198=
NM_001201402.2:c.585G=	NP_001188331.1:p.Val195=