Canonical Allele Identifier: CA2201614949

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362246T= , CM000678.2:g.1362246T=	GRCh38
NC_000016.9:g.1412247T= , CM000678.1:g.1412247T=	GRCh37
NC_000016.8:g.1352248T=	NCBI36
NG_016985.1:g.15348T=
NG_033129.1:g.57459A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.551T=
ENST00000529110.2:c.536T=	ENSP00000435349.2:p.Val179=
ENST00000529957.6:n.510T=
ENST00000683366.1:c.*184T=	ENSP00000507283.1:n.*184T=
ENST00000683887.1:c.500T=	ENSP00000506886.1:p.Val167=
ENST00000684100.1:n.446T=
ENST00000684126.1:n.510T=
ENST00000684688.1:n.1077T=
ENST00000204679.9:c.452T= MANE Select	ENSP00000204679.4:p.Val151=
ENST00000204679.8:c.452T=	ENSP00000204679.4:p.Val151=
ENST00000527076.1:n.1468T=
ENST00000527168.5:n.488T=
ENST00000529110.1:c.519T=
ENST00000529957.5:n.551T=
NM_032520.4:c.452T=	NP_115909.1:p.Val151=
XM_017023782.1:c.500T=	XP_016879271.1:p.Val167=
XM_017023783.1:c.92T=	XP_016879272.1:p.Val31=
NM_032520.5:c.452T= MANE Select	NP_115909.1:p.Val151=