Canonical Allele Identifier: CA2201615420

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362834G= , CM000678.2:g.1362834G=	GRCh38
NC_000016.9:g.1412835G= , CM000678.1:g.1412835G=	GRCh37
NC_000016.8:g.1352836G=	NCBI36
NG_016985.1:g.15936G=
NG_033129.1:g.56871C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.850G=
ENST00000529110.2:c.835G=	ENSP00000435349.2:p.Glu279=
ENST00000529957.6:n.809G=
ENST00000683366.1:c.*483G=	ENSP00000507283.1:n.*483G=
ENST00000683887.1:c.799G=	ENSP00000506886.1:p.Glu267=
ENST00000684100.1:n.745G=
ENST00000684126.1:n.885G=
ENST00000684688.1:n.1376G=
ENST00000204679.9:c.751G= MANE Select	ENSP00000204679.4:p.Glu251=
ENST00000204679.8:c.751G=	ENSP00000204679.4:p.Glu251=
ENST00000527076.1:n.1974G=
ENST00000527168.5:n.918G=
ENST00000529957.5:n.850G=
NM_032520.4:c.751G=	NP_115909.1:p.Glu251=
XM_017023782.1:c.799G=	XP_016879271.1:p.Glu267=
XM_017023783.1:c.391G=	XP_016879272.1:p.Glu131=
NM_032520.5:c.751G= MANE Select	NP_115909.1:p.Glu251=