Canonical Allele Identifier: CA2153356851

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945637G= , CM000676.2:g.87945637G=	GRCh38
NC_000014.8:g.88411981G= , CM000676.1:g.88411981G=	GRCh37
NC_000014.7:g.87481734G=	NCBI36
NG_011853.2:g.52927C=
NG_011853.3:g.52927C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1586C= MANE Select	NP_000144.2:p.Thr529=
ENST00000261304.7:c.1586C= MANE Select	ENSP00000261304.2:p.Thr529=
NM_000153.3:c.1586C=	NP_000144.2:p.Thr529=
NM_001201401.1:c.1517C=	NP_001188330.1:p.Thr506=
NM_001201401.2:c.1517C=	NP_001188330.1:p.Thr506=
NM_001201402.1:c.1508C=	NP_001188331.1:p.Thr503=
NM_001201402.2:c.1508C=	NP_001188331.1:p.Thr503=
ENST00000261304.6:c.1586C=	ENSP00000261304.2:p.Thr529=
ENST00000393568.8:c.1517C=	ENSP00000377198.4:p.Thr506=
ENST00000393569.6:c.1508C=	ENSP00000377199.2:p.Thr503=
ENST00000544807.6:c.1418C=	ENSP00000437513.2:p.Thr473=
ENST00000555000.5:c.953C=	ENSP00000450472.1:p.Thr318=
ENST00000555179.1:c.206+2091C=
ENST00000557316.5:c.*984C=	ENSP00000452314.1:n.*984C=
XM_011536618.1:c.1418C=	XP_011534920.1:p.Thr473=
XM_011536618.2:c.1418C=	XP_011534920.1:p.Thr473=