Canonical Allele Identifier: CA2201615448
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362880A= , CM000678.2:g.1362880A= GRCh38
NC_000016.9:g.1412881A= , CM000678.1:g.1412881A= GRCh37
NC_000016.8:g.1352882A= NCBI36
NG_016985.1:g.15982A=
NG_033129.1:g.56825T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.896A=
ENST00000529110.2:c.881A= ENSP00000435349.2:p.His294=
ENST00000529957.6:n.855A=
ENST00000683366.1:c.*529A= ENSP00000507283.1:n.*529A=
ENST00000683887.1:c.845A= ENSP00000506886.1:p.His282=
ENST00000684100.1:n.791A=
ENST00000684126.1:n.931A=
ENST00000684688.1:n.1422A=
ENST00000204679.9:c.797A= MANE Select ENSP00000204679.4:p.His266=
ENST00000204679.8:c.797A= ENSP00000204679.4:p.His266=
ENST00000527076.1:n.2020A=
ENST00000527168.5:n.964A=
ENST00000529957.5:n.896A=
NM_032520.4:c.797A= NP_115909.1:p.His266=
XM_017023782.1:c.845A= XP_016879271.1:p.His282=
XM_017023783.1:c.437A= XP_016879272.1:p.His146=
NM_032520.5:c.797A= MANE Select NP_115909.1:p.His266=