Canonical Allele Identifier: CA2201615469
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362905A= , CM000678.2:g.1362905A= GRCh38
NC_000016.9:g.1412906A= , CM000678.1:g.1412906A= GRCh37
NC_000016.8:g.1352907A= NCBI36
NG_016985.1:g.16007A=
NG_033129.1:g.56800T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.921A=
ENST00000529110.2:c.906A= ENSP00000435349.2:p.Thr302=
ENST00000529957.6:n.880A=
ENST00000683366.1:c.*554A= ENSP00000507283.1:n.*554A=
ENST00000683887.1:c.870A= ENSP00000506886.1:p.Thr290=
ENST00000684100.1:n.816A=
ENST00000684126.1:n.956A=
ENST00000684688.1:n.1447A=
ENST00000204679.9:c.822A= MANE Select ENSP00000204679.4:p.Thr274=
ENST00000204679.8:c.822A= ENSP00000204679.4:p.Thr274=
ENST00000527076.1:n.2045A=
ENST00000527168.5:n.989A=
ENST00000529957.5:n.921A=
NM_032520.4:c.822A= NP_115909.1:p.Thr274=
XM_017023782.1:c.870A= XP_016879271.1:p.Thr290=
XM_017023783.1:c.462A= XP_016879272.1:p.Thr154=
NM_032520.5:c.822A= MANE Select NP_115909.1:p.Thr274=