Canonical Allele Identifier: CA2201615455

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362887C= , CM000678.2:g.1362887C=	GRCh38
NC_000016.9:g.1412888C= , CM000678.1:g.1412888C=	GRCh37
NC_000016.8:g.1352889C=	NCBI36
NG_016985.1:g.15989C=
NG_033129.1:g.56818G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.903C=
ENST00000529110.2:c.888C=	ENSP00000435349.2:p.Ile296=
ENST00000529957.6:n.862C=
ENST00000683366.1:c.*536C=	ENSP00000507283.1:n.*536C=
ENST00000683887.1:c.852C=	ENSP00000506886.1:p.Ile284=
ENST00000684100.1:n.798C=
ENST00000684126.1:n.938C=
ENST00000684688.1:n.1429C=
ENST00000204679.9:c.804C= MANE Select	ENSP00000204679.4:p.Ile268=
ENST00000204679.8:c.804C=	ENSP00000204679.4:p.Ile268=
ENST00000527076.1:n.2027C=
ENST00000527168.5:n.971C=
ENST00000529957.5:n.903C=
NM_032520.4:c.804C=	NP_115909.1:p.Ile268=
XM_017023782.1:c.852C=	XP_016879271.1:p.Ile284=
XM_017023783.1:c.444C=	XP_016879272.1:p.Ile148=
NM_032520.5:c.804C= MANE Select	NP_115909.1:p.Ile268=