Canonical Allele Identifier: CA2201615025

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362295C= , CM000678.2:g.1362295C=	GRCh38
NC_000016.9:g.1412296C= , CM000678.1:g.1412296C=	GRCh37
NC_000016.8:g.1352297C=	NCBI36
NG_016985.1:g.15397C=
NG_033129.1:g.57410G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.600C=
ENST00000529110.2:c.585C=	ENSP00000435349.2:p.Leu195=
ENST00000529957.6:n.559C=
ENST00000683366.1:c.*233C=	ENSP00000507283.1:n.*233C=
ENST00000683887.1:c.549C=	ENSP00000506886.1:p.Leu183=
ENST00000684100.1:n.495C=
ENST00000684126.1:n.559C=
ENST00000684688.1:n.1126C=
ENST00000204679.9:c.501C= MANE Select	ENSP00000204679.4:p.Leu167=
ENST00000204679.8:c.501C=	ENSP00000204679.4:p.Leu167=
ENST00000527076.1:n.1517C=
ENST00000527168.5:n.537C=
ENST00000529957.5:n.600C=
NM_032520.4:c.501C=	NP_115909.1:p.Leu167=
XM_017023782.1:c.549C=	XP_016879271.1:p.Leu183=
XM_017023783.1:c.141C=	XP_016879272.1:p.Leu47=
NM_032520.5:c.501C= MANE Select	NP_115909.1:p.Leu167=