Canonical Allele Identifier: CA2153381752

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976364A= , CM000676.2:g.87976364A=	GRCh38
NC_000014.8:g.88442708A= , CM000676.1:g.88442708A=	GRCh37
NC_000014.7:g.87512461A=	NCBI36
NG_011853.2:g.22200T=
NG_011853.3:g.22200T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.746T= MANE Select	ENSP00000261304.2:p.Val249=
ENST00000261304.6:c.746T=	ENSP00000261304.2:p.Val249=
ENST00000393568.8:c.677T=	ENSP00000377198.4:p.Val226=
ENST00000393569.6:c.668T=	ENSP00000377199.2:p.Val223=
ENST00000474294.6:n.736T=
ENST00000477716.3:n.501T=
ENST00000544807.6:c.578T=	ENSP00000437513.2:p.Val193=
ENST00000554916.5:n.625T=
ENST00000555000.5:c.113T=	ENSP00000450472.1:p.Val38=
ENST00000557316.5:c.*144T=	ENSP00000452314.1:n.*144T=
ENST00000622264.4:c.736T=
NM_000153.3:c.746T=	NP_000144.2:p.Val249=
NM_001201401.1:c.677T=	NP_001188330.1:p.Val226=
NM_001201402.1:c.668T=	NP_001188331.1:p.Val223=
XM_011536618.1:c.578T=	XP_011534920.1:p.Val193=
XM_011536618.2:c.578T=	XP_011534920.1:p.Val193=
NM_000153.4:c.746T= MANE Select	NP_000144.2:p.Val249=
NM_001201401.2:c.677T=	NP_001188330.1:p.Val226=
NM_001201402.2:c.668T=	NP_001188331.1:p.Val223=