Canonical Allele Identifier: CA2201615447

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362879C= , CM000678.2:g.1362879C=	GRCh38
NC_000016.9:g.1412880C= , CM000678.1:g.1412880C=	GRCh37
NC_000016.8:g.1352881C=	NCBI36
NG_016985.1:g.15981C=
NG_033129.1:g.56826G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.895C=
ENST00000529110.2:c.880C=	ENSP00000435349.2:p.His294=
ENST00000529957.6:n.854C=
ENST00000683366.1:c.*528C=	ENSP00000507283.1:n.*528C=
ENST00000683887.1:c.844C=	ENSP00000506886.1:p.His282=
ENST00000684100.1:n.790C=
ENST00000684126.1:n.930C=
ENST00000684688.1:n.1421C=
ENST00000204679.9:c.796C= MANE Select	ENSP00000204679.4:p.His266=
ENST00000204679.8:c.796C=	ENSP00000204679.4:p.His266=
ENST00000527076.1:n.2019C=
ENST00000527168.5:n.963C=
ENST00000529957.5:n.895C=
NM_032520.4:c.796C=	NP_115909.1:p.His266=
XM_017023782.1:c.844C=	XP_016879271.1:p.His282=
XM_017023783.1:c.436C=	XP_016879272.1:p.His146=
NM_032520.5:c.796C= MANE Select	NP_115909.1:p.His266=