Canonical Allele Identifier: CA2201615468

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362904C= , CM000678.2:g.1362904C=	GRCh38
NC_000016.9:g.1412905C= , CM000678.1:g.1412905C=	GRCh37
NC_000016.8:g.1352906C=	NCBI36
NG_016985.1:g.16006C=
NG_033129.1:g.56801G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.920C=
ENST00000529110.2:c.905C=	ENSP00000435349.2:p.Thr302=
ENST00000529957.6:n.879C=
ENST00000683366.1:c.*553C=	ENSP00000507283.1:n.*553C=
ENST00000683887.1:c.869C=	ENSP00000506886.1:p.Thr290=
ENST00000684100.1:n.815C=
ENST00000684126.1:n.955C=
ENST00000684688.1:n.1446C=
ENST00000204679.9:c.821C= MANE Select	ENSP00000204679.4:p.Thr274=
ENST00000204679.8:c.821C=	ENSP00000204679.4:p.Thr274=
ENST00000527076.1:n.2044C=
ENST00000527168.5:n.988C=
ENST00000529957.5:n.920C=
NM_032520.4:c.821C=	NP_115909.1:p.Thr274=
XM_017023782.1:c.869C=	XP_016879271.1:p.Thr290=
XM_017023783.1:c.461C=	XP_016879272.1:p.Thr154=
NM_032520.5:c.821C= MANE Select	NP_115909.1:p.Thr274=