Canonical Allele Identifier: CA2201615029

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362301C= , CM000678.2:g.1362301C=	GRCh38
NC_000016.9:g.1412302C= , CM000678.1:g.1412302C=	GRCh37
NC_000016.8:g.1352303C=	NCBI36
NG_016985.1:g.15403C=
NG_033129.1:g.57404G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.606C=
ENST00000529110.2:c.591C=	ENSP00000435349.2:p.Cys197=
ENST00000529957.6:n.565C=
ENST00000683366.1:c.*239C=	ENSP00000507283.1:n.*239C=
ENST00000683887.1:c.555C=	ENSP00000506886.1:p.Cys185=
ENST00000684100.1:n.501C=
ENST00000684126.1:n.565C=
ENST00000684688.1:n.1132C=
ENST00000204679.9:c.507C= MANE Select	ENSP00000204679.4:p.Cys169=
ENST00000204679.8:c.507C=	ENSP00000204679.4:p.Cys169=
ENST00000527076.1:n.1523C=
ENST00000527168.5:n.543C=
ENST00000529957.5:n.606C=
NM_032520.4:c.507C=	NP_115909.1:p.Cys169=
XM_017023782.1:c.555C=	XP_016879271.1:p.Cys185=
XM_017023783.1:c.147C=	XP_016879272.1:p.Cys49=
NM_032520.5:c.507C= MANE Select	NP_115909.1:p.Cys169=