Canonical Allele Identifier: CA2201615033

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362305C= , CM000678.2:g.1362305C=	GRCh38
NC_000016.9:g.1412306C= , CM000678.1:g.1412306C=	GRCh37
NC_000016.8:g.1352307C=	NCBI36
NG_016985.1:g.15407C=
NG_033129.1:g.57400G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.610C=
ENST00000529110.2:c.595C=	ENSP00000435349.2:p.Pro199=
ENST00000529957.6:n.569C=
ENST00000683366.1:c.*243C=	ENSP00000507283.1:n.*243C=
ENST00000683887.1:c.559C=	ENSP00000506886.1:p.Pro187=
ENST00000684100.1:n.505C=
ENST00000684126.1:n.569C=
ENST00000684688.1:n.1136C=
ENST00000204679.9:c.511C= MANE Select	ENSP00000204679.4:p.Pro171=
ENST00000204679.8:c.511C=	ENSP00000204679.4:p.Pro171=
ENST00000527076.1:n.1527C=
ENST00000527168.5:n.547C=
ENST00000529957.5:n.610C=
NM_032520.4:c.511C=	NP_115909.1:p.Pro171=
XM_017023782.1:c.559C=	XP_016879271.1:p.Pro187=
XM_017023783.1:c.151C=	XP_016879272.1:p.Pro51=
NM_032520.5:c.511C= MANE Select	NP_115909.1:p.Pro171=