Canonical Allele Identifier: CA2201615038

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362311G= , CM000678.2:g.1362311G=	GRCh38
NC_000016.9:g.1412312G= , CM000678.1:g.1412312G=	GRCh37
NC_000016.8:g.1352313G=	NCBI36
NG_016985.1:g.15413G=
NG_033129.1:g.57394C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.616G=
ENST00000529110.2:c.601G=	ENSP00000435349.2:p.Ala201=
ENST00000529957.6:n.575G=
ENST00000683366.1:c.*249G=	ENSP00000507283.1:n.*249G=
ENST00000683887.1:c.565G=	ENSP00000506886.1:p.Ala189=
ENST00000684100.1:n.511G=
ENST00000684126.1:n.575G=
ENST00000684688.1:n.1142G=
ENST00000204679.9:c.517G= MANE Select	ENSP00000204679.4:p.Ala173=
ENST00000204679.8:c.517G=	ENSP00000204679.4:p.Ala173=
ENST00000527076.1:n.1533G=
ENST00000527168.5:n.553G=
ENST00000529957.5:n.616G=
NM_032520.4:c.517G=	NP_115909.1:p.Ala173=
XM_017023782.1:c.565G=	XP_016879271.1:p.Ala189=
XM_017023783.1:c.157G=	XP_016879272.1:p.Ala53=
NM_032520.5:c.517G= MANE Select	NP_115909.1:p.Ala173=