Canonical Allele Identifier: CA2201615421

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362836A= , CM000678.2:g.1362836A=	GRCh38
NC_000016.9:g.1412837A= , CM000678.1:g.1412837A=	GRCh37
NC_000016.8:g.1352838A=	NCBI36
NG_016985.1:g.15938A=
NG_033129.1:g.56869T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.852A=
ENST00000529110.2:c.837A=	ENSP00000435349.2:p.Glu279=
ENST00000529957.6:n.811A=
ENST00000683366.1:c.*485A=	ENSP00000507283.1:n.*485A=
ENST00000683887.1:c.801A=	ENSP00000506886.1:p.Glu267=
ENST00000684100.1:n.747A=
ENST00000684126.1:n.887A=
ENST00000684688.1:n.1378A=
ENST00000204679.9:c.753A= MANE Select	ENSP00000204679.4:p.Glu251=
ENST00000204679.8:c.753A=	ENSP00000204679.4:p.Glu251=
ENST00000527076.1:n.1976A=
ENST00000527168.5:n.920A=
ENST00000529957.5:n.852A=
NM_032520.4:c.753A=	NP_115909.1:p.Glu251=
XM_017023782.1:c.801A=	XP_016879271.1:p.Glu267=
XM_017023783.1:c.393A=	XP_016879272.1:p.Glu131=
NM_032520.5:c.753A= MANE Select	NP_115909.1:p.Glu251=