Canonical Allele Identifier: CA2201615343

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362733C= , CM000678.2:g.1362733C=	GRCh38
NC_000016.9:g.1412734C= , CM000678.1:g.1412734C=	GRCh37
NC_000016.8:g.1352735C=	NCBI36
NG_016985.1:g.15835C=
NG_033129.1:g.56972G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.831C=
ENST00000529110.2:c.816C=	ENSP00000435349.2:p.Asn272=
ENST00000529957.6:n.790C=
ENST00000683366.1:c.*464C=	ENSP00000507283.1:n.*464C=
ENST00000683887.1:c.780C=	ENSP00000506886.1:p.Asn260=
ENST00000684100.1:n.726C=
ENST00000684126.1:n.866C=
ENST00000684688.1:n.1357C=
ENST00000204679.9:c.732C= MANE Select	ENSP00000204679.4:p.Asn244=
ENST00000204679.8:c.732C=	ENSP00000204679.4:p.Asn244=
ENST00000527076.1:n.1955C=
ENST00000527168.5:n.899C=
ENST00000529957.5:n.831C=
NM_032520.4:c.732C=	NP_115909.1:p.Asn244=
XM_017023782.1:c.780C=	XP_016879271.1:p.Asn260=
XM_017023783.1:c.372C=	XP_016879272.1:p.Asn124=
NM_032520.5:c.732C= MANE Select	NP_115909.1:p.Asn244=