Canonical Allele Identifier: CA2201615011

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362279C= , CM000678.2:g.1362279C=	GRCh38
NC_000016.9:g.1412280C= , CM000678.1:g.1412280C=	GRCh37
NC_000016.8:g.1352281C=	NCBI36
NG_016985.1:g.15381C=
NG_033129.1:g.57426G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.584C=
ENST00000529110.2:c.569C=	ENSP00000435349.2:p.Thr190=
ENST00000529957.6:n.543C=
ENST00000683366.1:c.*217C=	ENSP00000507283.1:n.*217C=
ENST00000683887.1:c.533C=	ENSP00000506886.1:p.Thr178=
ENST00000684100.1:n.479C=
ENST00000684126.1:n.543C=
ENST00000684688.1:n.1110C=
ENST00000204679.9:c.485C= MANE Select	ENSP00000204679.4:p.Thr162=
ENST00000204679.8:c.485C=	ENSP00000204679.4:p.Thr162=
ENST00000527076.1:n.1501C=
ENST00000527168.5:n.521C=
ENST00000529110.1:c.552C=
ENST00000529957.5:n.584C=
NM_032520.4:c.485C=	NP_115909.1:p.Thr162=
XM_017023782.1:c.533C=	XP_016879271.1:p.Thr178=
XM_017023783.1:c.125C=	XP_016879272.1:p.Thr42=
NM_032520.5:c.485C= MANE Select	NP_115909.1:p.Thr162=