Canonical Allele Identifier: CA2201615457

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362888C= , CM000678.2:g.1362888C=	GRCh38
NC_000016.9:g.1412889C= , CM000678.1:g.1412889C=	GRCh37
NC_000016.8:g.1352890C=	NCBI36
NG_016985.1:g.15990C=
NG_033129.1:g.56817G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.904C=
ENST00000529110.2:c.889C=	ENSP00000435349.2:p.Pro297=
ENST00000529957.6:n.863C=
ENST00000683366.1:c.*537C=	ENSP00000507283.1:n.*537C=
ENST00000683887.1:c.853C=	ENSP00000506886.1:p.Pro285=
ENST00000684100.1:n.799C=
ENST00000684126.1:n.939C=
ENST00000684688.1:n.1430C=
ENST00000204679.9:c.805C= MANE Select	ENSP00000204679.4:p.Pro269=
ENST00000204679.8:c.805C=	ENSP00000204679.4:p.Pro269=
ENST00000527076.1:n.2028C=
ENST00000527168.5:n.972C=
ENST00000529957.5:n.904C=
NM_032520.4:c.805C=	NP_115909.1:p.Pro269=
XM_017023782.1:c.853C=	XP_016879271.1:p.Pro285=
XM_017023783.1:c.445C=	XP_016879272.1:p.Pro149=
NM_032520.5:c.805C= MANE Select	NP_115909.1:p.Pro269=