Canonical Allele Identifier: CA2201614975

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362255C= , CM000678.2:g.1362255C=	GRCh38
NC_000016.9:g.1412256C= , CM000678.1:g.1412256C=	GRCh37
NC_000016.8:g.1352257C=	NCBI36
NG_016985.1:g.15357C=
NG_033129.1:g.57450G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.560C=
ENST00000529110.2:c.545C=	ENSP00000435349.2:p.Pro182=
ENST00000529957.6:n.519C=
ENST00000683366.1:c.*193C=	ENSP00000507283.1:n.*193C=
ENST00000683887.1:c.509C=	ENSP00000506886.1:p.Pro170=
ENST00000684100.1:n.455C=
ENST00000684126.1:n.519C=
ENST00000684688.1:n.1086C=
ENST00000204679.9:c.461C= MANE Select	ENSP00000204679.4:p.Pro154=
ENST00000204679.8:c.461C=	ENSP00000204679.4:p.Pro154=
ENST00000527076.1:n.1477C=
ENST00000527168.5:n.497C=
ENST00000529110.1:c.528C=
ENST00000529957.5:n.560C=
NM_032520.4:c.461C=	NP_115909.1:p.Pro154=
XM_017023782.1:c.509C=	XP_016879271.1:p.Pro170=
XM_017023783.1:c.101C=	XP_016879272.1:p.Pro34=
NM_032520.5:c.461C= MANE Select	NP_115909.1:p.Pro154=