Canonical Allele Identifier: CA2201614512

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362052G= , CM000678.2:g.1362052G=	GRCh38
NC_000016.9:g.1412053G= , CM000678.1:g.1412053G=	GRCh37
NC_000016.8:g.1352054G=	NCBI36
NG_016985.1:g.15154G=
NG_033129.1:g.57653C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.431G=
ENST00000529110.2:c.416G=	ENSP00000435349.2:p.Trp139=
ENST00000529957.6:n.390G=
ENST00000683366.1:c.*64G=	ENSP00000507283.1:n.*64G=
ENST00000683887.1:c.380G=	ENSP00000506886.1:p.Trp127=
ENST00000684100.1:n.326G=
ENST00000684126.1:n.390G=
ENST00000684688.1:n.957G=
ENST00000204679.9:c.332G= MANE Select	ENSP00000204679.4:p.Trp111=
ENST00000204679.8:c.332G=	ENSP00000204679.4:p.Trp111=
ENST00000526820.5:c.*234G=	ENSP00000434413.1:n.*234G=
ENST00000527076.1:n.1348G=
ENST00000527168.5:n.368G=
ENST00000529110.1:c.399G=
ENST00000529957.5:n.431G=
NM_032520.4:c.332G=	NP_115909.1:p.Trp111=
XM_017023782.1:c.380G=	XP_016879271.1:p.Trp127=
XM_017023783.1:c.-29G=	XP_016879272.1:n.-29G=
NM_032520.5:c.332G= MANE Select	NP_115909.1:p.Trp111=