Canonical Allele Identifier: CA2194542122
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318710C= , CM000677.2:g.89318710C= GRCh38
NC_000015.9:g.89861941C= , CM000677.1:g.89861941C= GRCh37
NC_000015.8:g.87662945C= NCBI36
NG_008218.1:g.21086G=
NG_011736.1:g.79748C= , LRG_500:g.79748C=
NG_008218.2:g.21086G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3313G= ENSP00000516154.1:p.Ala1105=
ENST00000268124.11:c.3313G= MANE Select ENSP00000268124.5:p.Ala1105=
ENST00000530292.3:c.2914G= ENSP00000432885.2:p.Ala972=
ENST00000635986.2:c.*383G= ENSP00000490653.2:n.*383G=
ENST00000636774.1:c.*1880G= ENSP00000489799.1:n.*1880G=
ENST00000637238.1:c.2122G= ENSP00000490756.1:n.2122G=
ENST00000637264.1:c.2385G=
ENST00000666746.1:c.2890G=
ENST00000672071.1:n.3511G=
ENST00000672695.1:n.490G=
ENST00000672923.2:n.3313G=
ENST00000268124.9:c.3313G= ENSP00000268124.5:p.Ala1105=
ENST00000442287.6:c.3313G= ENSP00000399851.2:p.Ala1105=
ENST00000530292.2:c.397G= ENSP00000432885.1:p.Ala133=
ENST00000631044.2:c.*2737G= ENSP00000486730.1:n.*2737G=
NM_001126131.1:c.3313G= NP_001119603.1:p.Ala1105=
NM_002693.2:c.3313G= NP_002684.1:p.Ala1105=
NM_001126131.2:c.3313G= NP_001119603.1:p.Ala1105=
NM_002693.3:c.3313G= MANE Select NP_002684.1:p.Ala1105=