Canonical Allele Identifier: CA2194550591
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321792C= , CM000677.2:g.89321792C= GRCh38
NC_000015.9:g.89865023C= , CM000677.1:g.89865023C= GRCh37
NC_000015.8:g.87666027C= NCBI36
NG_008218.1:g.18004G=
NG_008218.2:g.18004G=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.2542G= MANE Select NP_002684.1:p.Gly848=
ENST00000268124.11:c.2542G= MANE Select ENSP00000268124.5:p.Gly848=
NM_001126131.1:c.2542G= NP_001119603.1:p.Gly848=
NM_001126131.2:c.2542G= NP_001119603.1:p.Gly848=
NM_002693.2:c.2542G= NP_002684.1:p.Gly848=
ENST00000268124.9:c.2542G= ENSP00000268124.5:p.Gly848=
ENST00000442287.6:c.2542G= ENSP00000399851.2:p.Gly848=
ENST00000528881.2:c.196-532G=
ENST00000530292.3:c.2143G= ENSP00000432885.2:p.Gly715=
ENST00000530715.5:c.186-923G= ENSP00000431395.1:n.186-923G=
ENST00000532584.5:n.691G=
ENST00000631044.2:c.*1966G= ENSP00000486730.1:n.*1966G=
ENST00000635986.2:c.2542G= ENSP00000490653.2:p.Gly848=
ENST00000636774.1:c.*1109G= ENSP00000489799.1:n.*1109G=
ENST00000636937.2:c.2542G= ENSP00000516154.1:p.Gly848=
ENST00000637238.1:c.1239G= ENSP00000490756.1:n.1239G=
ENST00000637264.1:c.1614G=
ENST00000666746.1:c.2119G=
ENST00000670281.1:c.800+170G= ENSP00000499709.1:n.800+170G=
ENST00000672071.1:n.2740G=
ENST00000672923.2:n.2484G=