Canonical Allele Identifier: CA2201615020

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362290C= , CM000678.2:g.1362290C=	GRCh38
NC_000016.9:g.1412291C= , CM000678.1:g.1412291C=	GRCh37
NC_000016.8:g.1352292C=	NCBI36
NG_016985.1:g.15392C=
NG_033129.1:g.57415G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.595C=
ENST00000529110.2:c.580C=	ENSP00000435349.2:p.Pro194=
ENST00000529957.6:n.554C=
ENST00000683366.1:c.*228C=	ENSP00000507283.1:n.*228C=
ENST00000683887.1:c.544C=	ENSP00000506886.1:p.Pro182=
ENST00000684100.1:n.490C=
ENST00000684126.1:n.554C=
ENST00000684688.1:n.1121C=
ENST00000204679.9:c.496C= MANE Select	ENSP00000204679.4:p.Pro166=
ENST00000204679.8:c.496C=	ENSP00000204679.4:p.Pro166=
ENST00000527076.1:n.1512C=
ENST00000527168.5:n.532C=
ENST00000529957.5:n.595C=
NM_032520.4:c.496C=	NP_115909.1:p.Pro166=
XM_017023782.1:c.544C=	XP_016879271.1:p.Pro182=
XM_017023783.1:c.136C=	XP_016879272.1:p.Pro46=
NM_032520.5:c.496C= MANE Select	NP_115909.1:p.Pro166=