Canonical Allele Identifier: CA2194549916
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325492G= , CM000677.2:g.89325492G= GRCh38
NC_000015.9:g.89868723G= , CM000677.1:g.89868723G= GRCh37
NC_000015.8:g.87669727G= NCBI36
NG_008218.1:g.14304C=
NG_008218.2:g.14304C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1907C= ENSP00000516154.1:p.Thr636=
ENST00000268124.11:c.1907C= MANE Select ENSP00000268124.5:p.Thr636=
ENST00000530292.3:c.1508C= ENSP00000432885.2:p.Thr503=
ENST00000635986.2:c.1907C= ENSP00000490653.2:p.Thr636=
ENST00000636774.1:c.*474C= ENSP00000489799.1:n.*474C=
ENST00000637238.1:c.644C= ENSP00000490756.1:p.Thr215=
ENST00000637264.1:c.979C=
ENST00000666746.1:c.1484C=
ENST00000670281.1:c.227C= ENSP00000499709.1:p.Thr76=
ENST00000672071.1:n.2105C=
ENST00000672923.2:n.2010C=
ENST00000268124.9:c.1907C= ENSP00000268124.5:p.Thr636=
ENST00000442287.6:c.1907C= ENSP00000399851.2:p.Thr636=
ENST00000526314.2:c.289C=
ENST00000526398.1:c.96C=
ENST00000532584.5:n.109C=
ENST00000631044.2:c.*1290C= ENSP00000486730.1:n.*1290C=
NM_001126131.1:c.1907C= NP_001119603.1:p.Thr636=
NM_002693.2:c.1907C= NP_002684.1:p.Thr636=
NM_001126131.2:c.1907C= NP_001119603.1:p.Thr636=
NM_002693.3:c.1907C= MANE Select NP_002684.1:p.Thr636=