Canonical Allele Identifier: CA2201615024

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362294T= , CM000678.2:g.1362294T=	GRCh38
NC_000016.9:g.1412295T= , CM000678.1:g.1412295T=	GRCh37
NC_000016.8:g.1352296T=	NCBI36
NG_016985.1:g.15396T=
NG_033129.1:g.57411A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.599T=
ENST00000529110.2:c.584T=	ENSP00000435349.2:p.Leu195=
ENST00000529957.6:n.558T=
ENST00000683366.1:c.*232T=	ENSP00000507283.1:n.*232T=
ENST00000683887.1:c.548T=	ENSP00000506886.1:p.Leu183=
ENST00000684100.1:n.494T=
ENST00000684126.1:n.558T=
ENST00000684688.1:n.1125T=
ENST00000204679.9:c.500T= MANE Select	ENSP00000204679.4:p.Leu167=
ENST00000204679.8:c.500T=	ENSP00000204679.4:p.Leu167=
ENST00000527076.1:n.1516T=
ENST00000527168.5:n.536T=
ENST00000529957.5:n.599T=
NM_032520.4:c.500T=	NP_115909.1:p.Leu167=
XM_017023782.1:c.548T=	XP_016879271.1:p.Leu183=
XM_017023783.1:c.140T=	XP_016879272.1:p.Leu47=
NM_032520.5:c.500T= MANE Select	NP_115909.1:p.Leu167=