Canonical Allele Identifier: CA393756868
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323487T>C , CM000677.2:g.89323487T>C GRCh38
NC_000015.9:g.89866718T>C , CM000677.1:g.89866718T>C GRCh37
NC_000015.8:g.87667722T>C NCBI36
NG_008218.1:g.16309A>G
NG_008218.2:g.16309A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2182A>G ENSP00000516154.1:p.Thr728Ala
ENST00000268124.11:c.2182A>G MANE Select ENSP00000268124.5:p.Thr728Ala
ENST00000530292.3:c.1783A>G ENSP00000432885.2:p.Thr595Ala
ENST00000635986.2:c.2182A>G ENSP00000490653.2:p.Thr728Ala
ENST00000636774.1:c.*749A>G ENSP00000489799.1:n.*749A>G
ENST00000637238.1:c.879A>G ENSP00000490756.1:n.879A>G
ENST00000637264.1:c.1254A>G
ENST00000666746.1:c.1759A>G
ENST00000670281.1:c.502A>G ENSP00000499709.1:p.Thr168Ala
ENST00000672071.1:n.2380A>G
ENST00000672923.2:n.2285A>G
ENST00000268124.9:c.2182A>G ENSP00000268124.5:p.Thr728Ala
ENST00000442287.6:c.2182A>G ENSP00000399851.2:p.Thr728Ala
ENST00000526314.2:c.539+328A>G
ENST00000526398.1:c.331A>G
ENST00000532584.5:n.384A>G
ENST00000631044.2:c.*1606A>G ENSP00000486730.1:n.*1606A>G
NM_001126131.1:c.2182A>G NP_001119603.1:p.Thr728Ala
NM_002693.2:c.2182A>G NP_002684.1:p.Thr728Ala
NM_001126131.2:c.2182A>G NP_001119603.1:p.Thr728Ala
NM_002693.3:c.2182A>G MANE Select NP_002684.1:p.Thr728Ala