Canonical Allele Identifier: CA2201614923

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362240C= , CM000678.2:g.1362240C=	GRCh38
NC_000016.9:g.1412241C= , CM000678.1:g.1412241C=	GRCh37
NC_000016.8:g.1352242C=	NCBI36
NG_016985.1:g.15342C=
NG_033129.1:g.57465G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.545C=
ENST00000529110.2:c.530C=	ENSP00000435349.2:p.Ala177=
ENST00000529957.6:n.504C=
ENST00000683366.1:c.*178C=	ENSP00000507283.1:n.*178C=
ENST00000683887.1:c.494C=	ENSP00000506886.1:p.Ala165=
ENST00000684100.1:n.440C=
ENST00000684126.1:n.504C=
ENST00000684688.1:n.1071C=
ENST00000204679.9:c.446C= MANE Select	ENSP00000204679.4:p.Ala149=
ENST00000204679.8:c.446C=	ENSP00000204679.4:p.Ala149=
ENST00000527076.1:n.1462C=
ENST00000527168.5:n.482C=
ENST00000529110.1:c.513C=
ENST00000529957.5:n.545C=
NM_032520.4:c.446C=	NP_115909.1:p.Ala149=
XM_017023782.1:c.494C=	XP_016879271.1:p.Ala165=
XM_017023783.1:c.86C=	XP_016879272.1:p.Ala29=
NM_032520.5:c.446C= MANE Select	NP_115909.1:p.Ala149=