Canonical Allele Identifier: CA2201615034

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362307C= , CM000678.2:g.1362307C=	GRCh38
NC_000016.9:g.1412308C= , CM000678.1:g.1412308C=	GRCh37
NC_000016.8:g.1352309C=	NCBI36
NG_016985.1:g.15409C=
NG_033129.1:g.57398G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.612C=
ENST00000529110.2:c.597C=	ENSP00000435349.2:p.Pro199=
ENST00000529957.6:n.571C=
ENST00000683366.1:c.*245C=	ENSP00000507283.1:n.*245C=
ENST00000683887.1:c.561C=	ENSP00000506886.1:p.Pro187=
ENST00000684100.1:n.507C=
ENST00000684126.1:n.571C=
ENST00000684688.1:n.1138C=
ENST00000204679.9:c.513C= MANE Select	ENSP00000204679.4:p.Pro171=
ENST00000204679.8:c.513C=	ENSP00000204679.4:p.Pro171=
ENST00000527076.1:n.1529C=
ENST00000527168.5:n.549C=
ENST00000529957.5:n.612C=
NM_032520.4:c.513C=	NP_115909.1:p.Pro171=
XM_017023782.1:c.561C=	XP_016879271.1:p.Pro187=
XM_017023783.1:c.153C=	XP_016879272.1:p.Pro51=
NM_032520.5:c.513C= MANE Select	NP_115909.1:p.Pro171=