Canonical Allele Identifier: CA2201615192
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362526A= , CM000678.2:g.1362526A= GRCh38
NC_000016.9:g.1412527A= , CM000678.1:g.1412527A= GRCh37
NC_000016.8:g.1352528A= NCBI36
NG_016985.1:g.15628A=
NG_033129.1:g.57179T=

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.700A=
ENST00000529110.2:c.685A= ENSP00000435349.2:p.Thr229=
ENST00000529957.6:n.659A=
ENST00000683366.1:c.*333A= ENSP00000507283.1:n.*333A=
ENST00000683887.1:c.649A= ENSP00000506886.1:p.Thr217=
ENST00000684100.1:n.595A=
ENST00000684126.1:n.659A=
ENST00000684688.1:n.1226A=
ENST00000204679.9:c.601A= MANE Select ENSP00000204679.4:p.Thr201=
ENST00000204679.8:c.601A= ENSP00000204679.4:p.Thr201=
ENST00000527076.1:n.1748A=
ENST00000527168.5:n.768A=
ENST00000529957.5:n.700A=
NM_032520.4:c.601A= NP_115909.1:p.Thr201=
XM_017023782.1:c.649A= XP_016879271.1:p.Thr217=
XM_017023783.1:c.241A= XP_016879272.1:p.Thr81=
NM_032520.5:c.601A= MANE Select NP_115909.1:p.Thr201=