Canonical Allele Identifier: CA393753349
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321010A>C , CM000677.2:g.89321010A>C GRCh38
NC_000015.9:g.89864241A>C , CM000677.1:g.89864241A>C GRCh37
NC_000015.8:g.87665245A>C NCBI36
NG_008218.1:g.18786T>G
NG_008218.2:g.18786T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2737T>G ENSP00000516154.1:p.Cys913Gly
ENST00000268124.11:c.2737T>G MANE Select ENSP00000268124.5:p.Cys913Gly
ENST00000530292.3:c.2338T>G ENSP00000432885.2:p.Cys780Gly
ENST00000635986.2:c.2737T>G ENSP00000490653.2:p.Cys913Gly
ENST00000636774.1:c.*1304T>G ENSP00000489799.1:n.*1304T>G
ENST00000637238.1:c.1546T>G ENSP00000490756.1:n.1546T>G
ENST00000637264.1:c.1809T>G
ENST00000666746.1:c.2314T>G
ENST00000670281.1:c.800+952T>G ENSP00000499709.1:n.800+952T>G
ENST00000672071.1:n.2935T>G
ENST00000672923.2:n.2679T>G
ENST00000268124.9:c.2737T>G ENSP00000268124.5:p.Cys913Gly
ENST00000442287.6:c.2737T>G ENSP00000399851.2:p.Cys913Gly
ENST00000528881.2:c.334T>G
ENST00000530715.5:c.186-141T>G ENSP00000431395.1:n.186-141T>G
ENST00000631044.2:c.*2161T>G ENSP00000486730.1:n.*2161T>G
NM_001126131.1:c.2737T>G NP_001119603.1:p.Cys913Gly
NM_002693.2:c.2737T>G NP_002684.1:p.Cys913Gly
NM_001126131.2:c.2737T>G NP_001119603.1:p.Cys913Gly
NM_002693.3:c.2737T>G MANE Select NP_002684.1:p.Cys913Gly