Canonical Allele Identifier: CA2194555623
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323504C= , CM000677.2:g.89323504C= GRCh38
NC_000015.9:g.89866735C= , CM000677.1:g.89866735C= GRCh37
NC_000015.8:g.87667739C= NCBI36
NG_008218.1:g.16292G=
NG_008218.2:g.16292G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2165G= ENSP00000516154.1:p.Arg722=
ENST00000268124.11:c.2165G= MANE Select ENSP00000268124.5:p.Arg722=
ENST00000530292.3:c.1766G= ENSP00000432885.2:p.Arg589=
ENST00000635986.2:c.2165G= ENSP00000490653.2:p.Arg722=
ENST00000636774.1:c.*732G= ENSP00000489799.1:n.*732G=
ENST00000637238.1:c.862G= ENSP00000490756.1:n.862G=
ENST00000637264.1:c.1237G=
ENST00000666746.1:c.1742G=
ENST00000670281.1:c.485G= ENSP00000499709.1:p.Arg162=
ENST00000672071.1:n.2363G=
ENST00000672923.2:n.2268G=
ENST00000268124.9:c.2165G= ENSP00000268124.5:p.Arg722=
ENST00000442287.6:c.2165G= ENSP00000399851.2:p.Arg722=
ENST00000526314.2:c.539+311G=
ENST00000526398.1:c.314G=
ENST00000532584.5:n.367G=
ENST00000631044.2:c.*1589G= ENSP00000486730.1:n.*1589G=
NM_001126131.1:c.2165G= NP_001119603.1:p.Arg722=
NM_002693.2:c.2165G= NP_002684.1:p.Arg722=
NM_001126131.2:c.2165G= NP_001119603.1:p.Arg722=
NM_002693.3:c.2165G= MANE Select NP_002684.1:p.Arg722=