Canonical Allele Identifier: CA2153356912

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945672A= , CM000676.2:g.87945672A=	GRCh38
NC_000014.8:g.88412016A= , CM000676.1:g.88412016A=	GRCh37
NC_000014.7:g.87481769A=	NCBI36
NG_011853.2:g.52892T=
NG_011853.3:g.52892T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1551T= MANE Select	ENSP00000261304.2:p.Phe517=
ENST00000261304.6:c.1551T=	ENSP00000261304.2:p.Phe517=
ENST00000393568.8:c.1482T=	ENSP00000377198.4:p.Phe494=
ENST00000393569.6:c.1473T=	ENSP00000377199.2:p.Phe491=
ENST00000544807.6:c.1383T=	ENSP00000437513.2:p.Phe461=
ENST00000555000.5:c.918T=	ENSP00000450472.1:p.Phe306=
ENST00000555179.1:c.206+2056T=
ENST00000557316.5:c.*949T=	ENSP00000452314.1:n.*949T=
NM_000153.3:c.1551T=	NP_000144.2:p.Phe517=
NM_001201401.1:c.1482T=	NP_001188330.1:p.Phe494=
NM_001201402.1:c.1473T=	NP_001188331.1:p.Phe491=
XM_011536618.1:c.1383T=	XP_011534920.1:p.Phe461=
XM_011536618.2:c.1383T=	XP_011534920.1:p.Phe461=
NM_000153.4:c.1551T= MANE Select	NP_000144.2:p.Phe517=
NM_001201401.2:c.1482T=	NP_001188330.1:p.Phe494=
NM_001201402.2:c.1473T=	NP_001188331.1:p.Phe491=