Canonical Allele Identifier: CA393752884
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320910G>C , CM000677.2:g.89320910G>C GRCh38
NC_000015.9:g.89864141G>C , CM000677.1:g.89864141G>C GRCh37
NC_000015.8:g.87665145G>C NCBI36
NG_008218.1:g.18886C>G
NG_008218.2:g.18886C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2837C>G ENSP00000516154.1:p.Ala946Gly
ENST00000268124.11:c.2837C>G MANE Select ENSP00000268124.5:p.Ala946Gly
ENST00000530292.3:c.2438C>G ENSP00000432885.2:p.Ala813Gly
ENST00000635986.2:c.2837C>G ENSP00000490653.2:p.Ala946Gly
ENST00000636774.1:c.*1404C>G ENSP00000489799.1:n.*1404C>G
ENST00000637238.1:c.1646C>G ENSP00000490756.1:n.1646C>G
ENST00000637264.1:c.1909C>G
ENST00000666746.1:c.2414C>G
ENST00000670281.1:c.800+1052C>G ENSP00000499709.1:n.800+1052C>G
ENST00000672071.1:n.3035C>G
ENST00000672695.1:n.14C>G
ENST00000672923.2:n.2779C>G
ENST00000268124.9:c.2837C>G ENSP00000268124.5:p.Ala946Gly
ENST00000442287.6:c.2837C>G ENSP00000399851.2:p.Ala946Gly
ENST00000528881.2:c.434C>G
ENST00000530715.5:c.186-41C>G ENSP00000431395.1:n.186-41C>G
ENST00000631044.2:c.*2261C>G ENSP00000486730.1:n.*2261C>G
NM_001126131.1:c.2837C>G NP_001119603.1:p.Ala946Gly
NM_002693.2:c.2837C>G NP_002684.1:p.Ala946Gly
NM_001126131.2:c.2837C>G NP_001119603.1:p.Ala946Gly
NM_002693.3:c.2837C>G MANE Select NP_002684.1:p.Ala946Gly