Canonical Allele Identifier: CA2194562943
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329097C= , CM000677.2:g.89329097C= GRCh38
NC_000015.9:g.89872328C= , CM000677.1:g.89872328C= GRCh37
NC_000015.8:g.87673332C= NCBI36
NG_008218.1:g.10699G=
NG_008218.2:g.10699G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.869G= ENSP00000516154.1:p.Arg290=
ENST00000268124.11:c.869G= MANE Select ENSP00000268124.5:p.Arg290=
ENST00000530292.3:c.470G= ENSP00000432885.2:p.Arg157=
ENST00000635986.2:c.869G= ENSP00000490653.2:p.Arg290=
ENST00000636774.1:c.869G= ENSP00000489799.1:p.Arg290=
ENST00000666746.1:c.526G=
ENST00000672071.1:n.1067G=
ENST00000268124.9:c.869G= ENSP00000268124.5:p.Arg290=
ENST00000442287.6:c.869G= ENSP00000399851.2:p.Arg290=
ENST00000631044.2:c.*252G= ENSP00000486730.1:n.*252G=
NM_001126131.1:c.869G= NP_001119603.1:p.Arg290=
NM_002693.2:c.869G= NP_002684.1:p.Arg290=
NM_001126131.2:c.869G= NP_001119603.1:p.Arg290=
NM_002693.3:c.869G= MANE Select NP_002684.1:p.Arg290=