Canonical Allele Identifier: CA2194555174
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323406T= , CM000677.2:g.89323406T= GRCh38
NC_000015.9:g.89866637T= , CM000677.1:g.89866637T= GRCh37
NC_000015.8:g.87667641T= NCBI36
NG_008218.1:g.16390A=
NG_008218.2:g.16390A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2263A= ENSP00000516154.1:p.Lys755=
ENST00000268124.11:c.2263A= MANE Select ENSP00000268124.5:p.Lys755=
ENST00000530292.3:c.1864A= ENSP00000432885.2:p.Lys622=
ENST00000635986.2:c.2263A= ENSP00000490653.2:p.Lys755=
ENST00000636774.1:c.*830A= ENSP00000489799.1:n.*830A=
ENST00000637238.1:c.960A= ENSP00000490756.1:n.960A=
ENST00000637264.1:c.1335A=
ENST00000666746.1:c.1840A=
ENST00000670281.1:c.583A= ENSP00000499709.1:p.Lys195=
ENST00000672071.1:n.2461A=
ENST00000672923.2:n.2366A=
ENST00000268124.9:c.2263A= ENSP00000268124.5:p.Lys755=
ENST00000442287.6:c.2263A= ENSP00000399851.2:p.Lys755=
ENST00000526314.2:c.539+409A=
ENST00000526398.1:c.412A=
ENST00000528881.2:c.32A=
ENST00000530715.5:c.22A= ENSP00000431395.1:p.Lys8=
ENST00000532584.5:n.465A=
ENST00000631044.2:c.*1687A= ENSP00000486730.1:n.*1687A=
NM_001126131.1:c.2263A= NP_001119603.1:p.Lys755=
NM_002693.2:c.2263A= NP_002684.1:p.Lys755=
NM_001126131.2:c.2263A= NP_001119603.1:p.Lys755=
NM_002693.3:c.2263A= MANE Select NP_002684.1:p.Lys755=