Canonical Allele Identifier: CA2805170394
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325722G>C , CM000677.2:g.89325722G>C GRCh38
NC_000015.9:g.89868953G>C , CM000677.1:g.89868953G>C GRCh37
NC_000015.8:g.87669957G>C NCBI36
NG_008218.1:g.14074C>G
NG_008218.2:g.14074C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-36C>G ENSP00000516154.1:n.1713-36C>G
ENST00000268124.11:c.1713-36C>G MANE Select ENSP00000268124.5:n.1713-36C>G
ENST00000530292.3:c.1314-36C>G ENSP00000432885.2:n.1314-36C>G
ENST00000635986.2:c.1713-36C>G ENSP00000490653.2:n.1713-36C>G
ENST00000636774.1:c.*280-36C>G ENSP00000489799.1:n.*280-36C>G
ENST00000637238.1:c.450-36C>G ENSP00000490756.1:n.450-36C>G
ENST00000637264.1:c.785-36C>G
ENST00000666746.1:c.1290-36C>G
ENST00000670281.1:c.33-36C>G ENSP00000499709.1:n.33-36C>G
ENST00000672071.1:n.1911-36C>G
ENST00000672923.2:n.1816-36C>G
ENST00000268124.9:c.1713-36C>G ENSP00000268124.5:n.1713-36C>G
ENST00000442287.6:c.1713-36C>G ENSP00000399851.2:n.1713-36C>G
ENST00000526314.2:c.95-36C>G
ENST00000631044.2:c.*1096-36C>G ENSP00000486730.1:n.*1096-36C>G
NM_001126131.1:c.1713-36C>G NP_001119603.1:n.1713-36C>G
NM_002693.2:c.1713-36C>G NP_002684.1:n.1713-36C>G
NM_001126131.2:c.1713-36C>G NP_001119603.1:n.1713-36C>G
NM_002693.3:c.1713-36C>G MANE Select NP_002684.1:n.1713-36C>G