Canonical Allele Identifier: CA2201615470

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362906G= , CM000678.2:g.1362906G=	GRCh38
NC_000016.9:g.1412907G= , CM000678.1:g.1412907G=	GRCh37
NC_000016.8:g.1352908G=	NCBI36
NG_016985.1:g.16008G=
NG_033129.1:g.56799C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922G=
ENST00000529110.2:c.907G=	ENSP00000435349.2:p.Glu303=
ENST00000529957.6:n.881G=
ENST00000683366.1:c.*555G=	ENSP00000507283.1:n.*555G=
ENST00000683887.1:c.871G=	ENSP00000506886.1:p.Glu291=
ENST00000684100.1:n.817G=
ENST00000684126.1:n.957G=
ENST00000684688.1:n.1448G=
ENST00000204679.9:c.823G= MANE Select	ENSP00000204679.4:p.Glu275=
ENST00000204679.8:c.823G=	ENSP00000204679.4:p.Glu275=
ENST00000527076.1:n.2046G=
ENST00000527168.5:n.990G=
ENST00000529957.5:n.922G=
NM_032520.4:c.823G=	NP_115909.1:p.Glu275=
XM_017023782.1:c.871G=	XP_016879271.1:p.Glu291=
XM_017023783.1:c.463G=	XP_016879272.1:p.Glu155=
NM_032520.5:c.823G= MANE Select	NP_115909.1:p.Glu275=