Canonical Allele Identifier: CA2201615428

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362846G= , CM000678.2:g.1362846G=	GRCh38
NC_000016.9:g.1412847G= , CM000678.1:g.1412847G=	GRCh37
NC_000016.8:g.1352848G=	NCBI36
NG_016985.1:g.15948G=
NG_033129.1:g.56859C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.862G=
ENST00000529110.2:c.847G=	ENSP00000435349.2:p.Glu283=
ENST00000529957.6:n.821G=
ENST00000683366.1:c.*495G=	ENSP00000507283.1:n.*495G=
ENST00000683887.1:c.811G=	ENSP00000506886.1:p.Glu271=
ENST00000684100.1:n.757G=
ENST00000684126.1:n.897G=
ENST00000684688.1:n.1388G=
ENST00000204679.9:c.763G= MANE Select	ENSP00000204679.4:p.Glu255=
ENST00000204679.8:c.763G=	ENSP00000204679.4:p.Glu255=
ENST00000527076.1:n.1986G=
ENST00000527168.5:n.930G=
ENST00000529957.5:n.862G=
NM_032520.4:c.763G=	NP_115909.1:p.Glu255=
XM_017023782.1:c.811G=	XP_016879271.1:p.Glu271=
XM_017023783.1:c.403G=	XP_016879272.1:p.Glu135=
NM_032520.5:c.763G= MANE Select	NP_115909.1:p.Glu255=