Canonical Allele Identifier: CA7807895

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362714G>A , CM000678.2:g.1362714G>A	GRCh38
NC_000016.9:g.1412715G>A , CM000678.1:g.1412715G>A	GRCh37
NC_000016.8:g.1352716G>A	NCBI36
NG_016985.1:g.15816G>A
NG_033129.1:g.56991C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.713G>A MANE Select	NP_115909.1:p.Gly238Glu
ENST00000204679.9:c.713G>A MANE Select	ENSP00000204679.4:p.Gly238Glu
NM_032520.4:c.713G>A	NP_115909.1:p.Gly238Glu
ENST00000204679.8:c.713G>A	ENSP00000204679.4:p.Gly238Glu
ENST00000527076.1:n.1936G>A
ENST00000527168.5:n.880G>A
ENST00000527168.6:n.812G>A
ENST00000529110.2:c.797G>A	ENSP00000435349.2:p.Gly266Glu
ENST00000529957.5:n.812G>A
ENST00000529957.6:n.771G>A
ENST00000683366.1:c.*445G>A	ENSP00000507283.1:n.*445G>A
ENST00000683887.1:c.761G>A	ENSP00000506886.1:p.Gly254Glu
ENST00000684100.1:n.707G>A
ENST00000684126.1:n.847G>A
ENST00000684688.1:n.1338G>A
XM_017023782.1:c.761G>A	XP_016879271.1:p.Gly254Glu
XM_017023783.1:c.353G>A	XP_016879272.1:p.Gly118Glu