Canonical Allele Identifier: CA2153381804

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976473G= , CM000676.2:g.87976473G=	GRCh38
NC_000014.8:g.88442817G= , CM000676.1:g.88442817G=	GRCh37
NC_000014.7:g.87512570G=	NCBI36
NG_011853.2:g.22091C=
NG_011853.3:g.22091C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.637C= MANE Select	ENSP00000261304.2:p.Leu213=
ENST00000261304.6:c.637C=	ENSP00000261304.2:p.Leu213=
ENST00000393568.8:c.568C=	ENSP00000377198.4:p.Leu190=
ENST00000393569.6:c.559C=	ENSP00000377199.2:p.Leu187=
ENST00000474294.6:n.627C=
ENST00000477716.3:n.392C=
ENST00000544807.6:c.469C=	ENSP00000437513.2:p.Leu157=
ENST00000554916.5:n.516C=
ENST00000555000.5:c.4C=	ENSP00000450472.1:p.Leu2=
ENST00000557316.5:c.*35C=	ENSP00000452314.1:n.*35C=
ENST00000622264.4:c.627C=
NM_000153.3:c.637C=	NP_000144.2:p.Leu213=
NM_001201401.1:c.568C=	NP_001188330.1:p.Leu190=
NM_001201402.1:c.559C=	NP_001188331.1:p.Leu187=
XM_011536618.1:c.469C=	XP_011534920.1:p.Leu157=
XM_011536618.2:c.469C=	XP_011534920.1:p.Leu157=
NM_000153.4:c.637C= MANE Select	NP_000144.2:p.Leu213=
NM_001201401.2:c.568C=	NP_001188330.1:p.Leu190=
NM_001201402.2:c.559C=	NP_001188331.1:p.Leu187=