Canonical Allele Identifier: CA2194550331
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321737C= , CM000677.2:g.89321737C= GRCh38
NC_000015.9:g.89864968C= , CM000677.1:g.89864968C= GRCh37
NC_000015.8:g.87665972C= NCBI36
NG_008218.1:g.18059G=
NG_008218.2:g.18059G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2597G= ENSP00000516154.1:p.Arg866=
ENST00000268124.11:c.2597G= MANE Select ENSP00000268124.5:p.Arg866=
ENST00000530292.3:c.2198G= ENSP00000432885.2:p.Arg733=
ENST00000635986.2:c.2597G= ENSP00000490653.2:p.Arg866=
ENST00000636774.1:c.*1164G= ENSP00000489799.1:n.*1164G=
ENST00000637238.1:c.1294G= ENSP00000490756.1:n.1294G=
ENST00000637264.1:c.1669G=
ENST00000666746.1:c.2174G=
ENST00000670281.1:c.800+225G= ENSP00000499709.1:n.800+225G=
ENST00000672071.1:n.2795G=
ENST00000672923.2:n.2539G=
ENST00000268124.9:c.2597G= ENSP00000268124.5:p.Arg866=
ENST00000442287.6:c.2597G= ENSP00000399851.2:p.Arg866=
ENST00000528881.2:c.196-477G=
ENST00000530715.5:c.186-868G= ENSP00000431395.1:n.186-868G=
ENST00000631044.2:c.*2021G= ENSP00000486730.1:n.*2021G=
NM_001126131.1:c.2597G= NP_001119603.1:p.Arg866=
NM_002693.2:c.2597G= NP_002684.1:p.Arg866=
NM_001126131.2:c.2597G= NP_001119603.1:p.Arg866=
NM_002693.3:c.2597G= MANE Select NP_002684.1:p.Arg866=