Canonical Allele Identifier: CA2201614207

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361928G= , CM000678.2:g.1361928G=	GRCh38
NC_000016.9:g.1411929G= , CM000678.1:g.1411929G=	GRCh37
NC_000016.8:g.1351930G=	NCBI36
NG_016985.1:g.15030G=
NG_033129.1:g.57777C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.389G=
ENST00000529110.2:c.374G=	ENSP00000435349.2:p.Arg125=
ENST00000529957.6:n.348G=
ENST00000683366.1:c.*22G=	ENSP00000507283.1:n.*22G=
ENST00000683887.1:c.338G=	ENSP00000506886.1:p.Arg113=
ENST00000684100.1:n.284G=
ENST00000684126.1:n.348G=
ENST00000684688.1:n.915G=
ENST00000204679.9:c.290G= MANE Select	ENSP00000204679.4:p.Arg97=
ENST00000204679.8:c.290G=	ENSP00000204679.4:p.Arg97=
ENST00000526820.5:c.*192G=	ENSP00000434413.1:n.*192G=
ENST00000527076.1:n.1306G=
ENST00000527168.5:n.326G=
ENST00000529110.1:c.357G=
ENST00000529957.5:n.389G=
NM_032520.4:c.290G=	NP_115909.1:p.Arg97=
XM_017023782.1:c.338G=	XP_016879271.1:p.Arg113=
XM_017023783.1:c.-71G=	XP_016879272.1:n.-71G=
NM_032520.5:c.290G= MANE Select	NP_115909.1:p.Arg97=