Canonical Allele Identifier: CA2201615429
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362848G= , CM000678.2:g.1362848G= GRCh38
NC_000016.9:g.1412849G= , CM000678.1:g.1412849G= GRCh37
NC_000016.8:g.1352850G= NCBI36
NG_016985.1:g.15950G=
NG_033129.1:g.56857C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.864G=
ENST00000529110.2:c.849G= ENSP00000435349.2:p.Glu283=
ENST00000529957.6:n.823G=
ENST00000683366.1:c.*497G= ENSP00000507283.1:n.*497G=
ENST00000683887.1:c.813G= ENSP00000506886.1:p.Glu271=
ENST00000684100.1:n.759G=
ENST00000684126.1:n.899G=
ENST00000684688.1:n.1390G=
ENST00000204679.9:c.765G= MANE Select ENSP00000204679.4:p.Glu255=
ENST00000204679.8:c.765G= ENSP00000204679.4:p.Glu255=
ENST00000527076.1:n.1988G=
ENST00000527168.5:n.932G=
ENST00000529957.5:n.864G=
NM_032520.4:c.765G= NP_115909.1:p.Glu255=
XM_017023782.1:c.813G= XP_016879271.1:p.Glu271=
XM_017023783.1:c.405G= XP_016879272.1:p.Glu135=
NM_032520.5:c.765G= MANE Select NP_115909.1:p.Glu255=