Canonical Allele Identifier: CA2201615458

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362889C= , CM000678.2:g.1362889C=	GRCh38
NC_000016.9:g.1412890C= , CM000678.1:g.1412890C=	GRCh37
NC_000016.8:g.1352891C=	NCBI36
NG_016985.1:g.15991C=
NG_033129.1:g.56816G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.905C=
ENST00000529110.2:c.890C=	ENSP00000435349.2:p.Pro297=
ENST00000529957.6:n.864C=
ENST00000683366.1:c.*538C=	ENSP00000507283.1:n.*538C=
ENST00000683887.1:c.854C=	ENSP00000506886.1:p.Pro285=
ENST00000684100.1:n.800C=
ENST00000684126.1:n.940C=
ENST00000684688.1:n.1431C=
ENST00000204679.9:c.806C= MANE Select	ENSP00000204679.4:p.Pro269=
ENST00000204679.8:c.806C=	ENSP00000204679.4:p.Pro269=
ENST00000527076.1:n.2029C=
ENST00000527168.5:n.973C=
ENST00000529957.5:n.905C=
NM_032520.4:c.806C=	NP_115909.1:p.Pro269=
XM_017023782.1:c.854C=	XP_016879271.1:p.Pro285=
XM_017023783.1:c.446C=	XP_016879272.1:p.Pro149=
NM_032520.5:c.806C= MANE Select	NP_115909.1:p.Pro269=