Canonical Allele Identifier: CA2201615445

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362874C= , CM000678.2:g.1362874C=	GRCh38
NC_000016.9:g.1412875C= , CM000678.1:g.1412875C=	GRCh37
NC_000016.8:g.1352876C=	NCBI36
NG_016985.1:g.15976C=
NG_033129.1:g.56831G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.890C=
ENST00000529110.2:c.875C=	ENSP00000435349.2:p.Thr292=
ENST00000529957.6:n.849C=
ENST00000683366.1:c.*523C=	ENSP00000507283.1:n.*523C=
ENST00000683887.1:c.839C=	ENSP00000506886.1:p.Thr280=
ENST00000684100.1:n.785C=
ENST00000684126.1:n.925C=
ENST00000684688.1:n.1416C=
ENST00000204679.9:c.791C= MANE Select	ENSP00000204679.4:p.Thr264=
ENST00000204679.8:c.791C=	ENSP00000204679.4:p.Thr264=
ENST00000527076.1:n.2014C=
ENST00000527168.5:n.958C=
ENST00000529957.5:n.890C=
NM_032520.4:c.791C=	NP_115909.1:p.Thr264=
XM_017023782.1:c.839C=	XP_016879271.1:p.Thr280=
XM_017023783.1:c.431C=	XP_016879272.1:p.Thr144=
NM_032520.5:c.791C= MANE Select	NP_115909.1:p.Thr264=