Canonical Allele Identifier: CA2201615035

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362308C= , CM000678.2:g.1362308C=	GRCh38
NC_000016.9:g.1412309C= , CM000678.1:g.1412309C=	GRCh37
NC_000016.8:g.1352310C=	NCBI36
NG_016985.1:g.15410C=
NG_033129.1:g.57397G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.613C=
ENST00000529110.2:c.598C=	ENSP00000435349.2:p.His200=
ENST00000529957.6:n.572C=
ENST00000683366.1:c.*246C=	ENSP00000507283.1:n.*246C=
ENST00000683887.1:c.562C=	ENSP00000506886.1:p.His188=
ENST00000684100.1:n.508C=
ENST00000684126.1:n.572C=
ENST00000684688.1:n.1139C=
ENST00000204679.9:c.514C= MANE Select	ENSP00000204679.4:p.His172=
ENST00000204679.8:c.514C=	ENSP00000204679.4:p.His172=
ENST00000527076.1:n.1530C=
ENST00000527168.5:n.550C=
ENST00000529957.5:n.613C=
NM_032520.4:c.514C=	NP_115909.1:p.His172=
XM_017023782.1:c.562C=	XP_016879271.1:p.His188=
XM_017023783.1:c.154C=	XP_016879272.1:p.His52=
NM_032520.5:c.514C= MANE Select	NP_115909.1:p.His172=