Canonical Allele Identifier: CA2153344278

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963480C= , CM000676.2:g.87963480C=	GRCh38
NC_000014.8:g.88429824C= , CM000676.1:g.88429824C=	GRCh37
NC_000014.7:g.87499577C=	NCBI36
NG_011853.2:g.35084G=
NG_011853.3:g.35084G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1065G= MANE Select	NP_000144.2:p.Trp355=
ENST00000261304.7:c.1065G= MANE Select	ENSP00000261304.2:p.Trp355=
NM_000153.3:c.1065G=	NP_000144.2:p.Trp355=
NM_001201401.1:c.996G=	NP_001188330.1:p.Trp332=
NM_001201401.2:c.996G=	NP_001188330.1:p.Trp332=
NM_001201402.1:c.987G=	NP_001188331.1:p.Trp329=
NM_001201402.2:c.987G=	NP_001188331.1:p.Trp329=
ENST00000261304.6:c.1065G=	ENSP00000261304.2:p.Trp355=
ENST00000393568.8:c.996G=	ENSP00000377198.4:p.Trp332=
ENST00000393569.6:c.987G=	ENSP00000377199.2:p.Trp329=
ENST00000474294.6:n.1055G=
ENST00000544807.6:c.897G=	ENSP00000437513.2:p.Trp299=
ENST00000555000.5:c.432G=	ENSP00000450472.1:p.Trp144=
ENST00000557316.5:c.*463G=	ENSP00000452314.1:n.*463G=
ENST00000557520.1:n.151G=
ENST00000622264.4:c.1055G=
XM_011536618.1:c.897G=	XP_011534920.1:p.Trp299=
XM_011536618.2:c.897G=	XP_011534920.1:p.Trp299=