Canonical Allele Identifier: CA2153381794

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976444T= , CM000676.2:g.87976444T=	GRCh38
NC_000014.8:g.88442788T= , CM000676.1:g.88442788T=	GRCh37
NC_000014.7:g.87512541T=	NCBI36
NG_011853.2:g.22120A=
NG_011853.3:g.22120A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.666A= MANE Select	ENSP00000261304.2:p.Lys222=
ENST00000261304.6:c.666A=	ENSP00000261304.2:p.Lys222=
ENST00000393568.8:c.597A=	ENSP00000377198.4:p.Lys199=
ENST00000393569.6:c.588A=	ENSP00000377199.2:p.Lys196=
ENST00000474294.6:n.656A=
ENST00000477716.3:n.421A=
ENST00000544807.6:c.498A=	ENSP00000437513.2:p.Lys166=
ENST00000554916.5:n.545A=
ENST00000555000.5:c.33A=	ENSP00000450472.1:p.Lys11=
ENST00000557316.5:c.*64A=	ENSP00000452314.1:n.*64A=
ENST00000622264.4:c.656A=
NM_000153.3:c.666A=	NP_000144.2:p.Lys222=
NM_001201401.1:c.597A=	NP_001188330.1:p.Lys199=
NM_001201402.1:c.588A=	NP_001188331.1:p.Lys196=
XM_011536618.1:c.498A=	XP_011534920.1:p.Lys166=
XM_011536618.2:c.498A=	XP_011534920.1:p.Lys166=
NM_000153.4:c.666A= MANE Select	NP_000144.2:p.Lys222=
NM_001201401.2:c.597A=	NP_001188330.1:p.Lys199=
NM_001201402.2:c.588A=	NP_001188331.1:p.Lys196=