Canonical Allele Identifier: CA292827
Gene: POLG HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89323915A>C
GRCh37 chr15:g.89867146A>C
gnomAD v2:
15:89867146 A / C
gnomAD v3:
15:89323915 A / C
gnomAD v4:
chr15-89323915-A-C
Joint Max Group AF 0.00045084 (NFE)
Genomes Max Group AF 0.00038031 (NFE)
Exomes Max Group AF 0.00044787 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323915A>C , CM000677.2:g.89323915A>C GRCh38
NC_000015.9:g.89867146A>C , CM000677.1:g.89867146A>C GRCh37
NC_000015.8:g.87668150A>C NCBI36
NG_008218.1:g.15881T>G
NG_008218.2:g.15881T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2071-14T>G ENSP00000516154.1:n.2071-14T>G
ENST00000268124.11:c.2071-14T>G MANE Select ENSP00000268124.5:n.2071-14T>G
ENST00000530292.3:c.1672-14T>G ENSP00000432885.2:n.1672-14T>G
ENST00000635986.2:c.2071-14T>G ENSP00000490653.2:n.2071-14T>G
ENST00000636774.1:c.*638-14T>G ENSP00000489799.1:n.*638-14T>G
ENST00000637238.1:c.768-14T>G ENSP00000490756.1:n.768-14T>G
ENST00000637264.1:c.1143-14T>G
ENST00000666746.1:c.1648-14T>G
ENST00000670281.1:c.391-14T>G ENSP00000499709.1:n.391-14T>G
ENST00000672071.1:n.2269-14T>G
ENST00000672923.2:n.2174-14T>G
ENST00000268124.9:c.2071-14T>G ENSP00000268124.5:n.2071-14T>G
ENST00000442287.6:c.2071-14T>G ENSP00000399851.2:n.2071-14T>G
ENST00000526314.2:c.453-14T>G
ENST00000526398.1:c.220-14T>G
ENST00000526573.1:n.157-14T>G
ENST00000532584.5:n.273-14T>G
ENST00000533857.1:n.186-14T>G
ENST00000631044.2:c.*1454-14T>G ENSP00000486730.1:n.*1454-14T>G
NM_001126131.1:c.2071-14T>G NP_001119603.1:n.2071-14T>G
NM_002693.2:c.2071-14T>G NP_002684.1:n.2071-14T>G
NM_001126131.2:c.2071-14T>G NP_001119603.1:n.2071-14T>G
NM_002693.3:c.2071-14T>G MANE Select NP_002684.1:n.2071-14T>G
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