Canonical Allele Identifier: CA2201615184

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362514G= , CM000678.2:g.1362514G=	GRCh38
NC_000016.9:g.1412515G= , CM000678.1:g.1412515G=	GRCh37
NC_000016.8:g.1352516G=	NCBI36
NG_016985.1:g.15616G=
NG_033129.1:g.57191C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.688G=
ENST00000529110.2:c.673G=	ENSP00000435349.2:p.Asp225=
ENST00000529957.6:n.647G=
ENST00000683366.1:c.*321G=	ENSP00000507283.1:n.*321G=
ENST00000683887.1:c.637G=	ENSP00000506886.1:p.Asp213=
ENST00000684100.1:n.583G=
ENST00000684126.1:n.647G=
ENST00000684688.1:n.1214G=
ENST00000204679.9:c.589G= MANE Select	ENSP00000204679.4:p.Asp197=
ENST00000204679.8:c.589G=	ENSP00000204679.4:p.Asp197=
ENST00000527076.1:n.1736G=
ENST00000527168.5:n.756G=
ENST00000529957.5:n.688G=
NM_032520.4:c.589G=	NP_115909.1:p.Asp197=
XM_017023782.1:c.637G=	XP_016879271.1:p.Asp213=
XM_017023783.1:c.229G=	XP_016879272.1:p.Asp77=
NM_032520.5:c.589G= MANE Select	NP_115909.1:p.Asp197=