Canonical Allele Identifier: CA2201615459

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362895C= , CM000678.2:g.1362895C=	GRCh38
NC_000016.9:g.1412896C= , CM000678.1:g.1412896C=	GRCh37
NC_000016.8:g.1352897C=	NCBI36
NG_016985.1:g.15997C=
NG_033129.1:g.56810G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.911C=
ENST00000529110.2:c.896C=	ENSP00000435349.2:p.Thr299=
ENST00000529957.6:n.870C=
ENST00000683366.1:c.*544C=	ENSP00000507283.1:n.*544C=
ENST00000683887.1:c.860C=	ENSP00000506886.1:p.Thr287=
ENST00000684100.1:n.806C=
ENST00000684126.1:n.946C=
ENST00000684688.1:n.1437C=
ENST00000204679.9:c.812C= MANE Select	ENSP00000204679.4:p.Thr271=
ENST00000204679.8:c.812C=	ENSP00000204679.4:p.Thr271=
ENST00000527076.1:n.2035C=
ENST00000527168.5:n.979C=
ENST00000529957.5:n.911C=
NM_032520.4:c.812C=	NP_115909.1:p.Thr271=
XM_017023782.1:c.860C=	XP_016879271.1:p.Thr287=
XM_017023783.1:c.452C=	XP_016879272.1:p.Thr151=
NM_032520.5:c.812C= MANE Select	NP_115909.1:p.Thr271=