Canonical Allele Identifier: CA2201615454

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362886T= , CM000678.2:g.1362886T=	GRCh38
NC_000016.9:g.1412887T= , CM000678.1:g.1412887T=	GRCh37
NC_000016.8:g.1352888T=	NCBI36
NG_016985.1:g.15988T=
NG_033129.1:g.56819A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.902T=
ENST00000529110.2:c.887T=	ENSP00000435349.2:p.Ile296=
ENST00000529957.6:n.861T=
ENST00000683366.1:c.*535T=	ENSP00000507283.1:n.*535T=
ENST00000683887.1:c.851T=	ENSP00000506886.1:p.Ile284=
ENST00000684100.1:n.797T=
ENST00000684126.1:n.937T=
ENST00000684688.1:n.1428T=
ENST00000204679.9:c.803T= MANE Select	ENSP00000204679.4:p.Ile268=
ENST00000204679.8:c.803T=	ENSP00000204679.4:p.Ile268=
ENST00000527076.1:n.2026T=
ENST00000527168.5:n.970T=
ENST00000529957.5:n.902T=
NM_032520.4:c.803T=	NP_115909.1:p.Ile268=
XM_017023782.1:c.851T=	XP_016879271.1:p.Ile284=
XM_017023783.1:c.443T=	XP_016879272.1:p.Ile148=
NM_032520.5:c.803T= MANE Select	NP_115909.1:p.Ile268=