Canonical Allele Identifier: CA292837
Gene: POLG HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89321019G>C
GRCh37 chr15:g.89864250G>C
gnomAD v2:
15:89864250 G / C
gnomAD v3:
15:89321019 G / C
gnomAD v4:
chr15-89321019-G-C
Joint Max Group AF 0.00045839 (NFE)
Genomes Max Group AF 0.00086085 (NFE)
Exomes Max Group AF 0.00042359 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321019G>C , CM000677.2:g.89321019G>C GRCh38
NC_000015.9:g.89864250G>C , CM000677.1:g.89864250G>C GRCh37
NC_000015.8:g.87665254G>C NCBI36
NG_008218.1:g.18777C>G
NG_008218.2:g.18777C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2735-7C>G ENSP00000516154.1:n.2735-7C>G
ENST00000268124.11:c.2735-7C>G MANE Select ENSP00000268124.5:n.2735-7C>G
ENST00000530292.3:c.2336-7C>G ENSP00000432885.2:n.2336-7C>G
ENST00000635986.2:c.2735-7C>G ENSP00000490653.2:n.2735-7C>G
ENST00000636774.1:c.*1302-7C>G ENSP00000489799.1:n.*1302-7C>G
ENST00000637238.1:c.1537C>G ENSP00000490756.1:n.1537C>G
ENST00000637264.1:c.1807-7C>G
ENST00000666746.1:c.2312-7C>G
ENST00000670281.1:c.800+943C>G ENSP00000499709.1:n.800+943C>G
ENST00000672071.1:n.2933-7C>G
ENST00000672923.2:n.2677-7C>G
ENST00000268124.9:c.2735-7C>G ENSP00000268124.5:n.2735-7C>G
ENST00000442287.6:c.2735-7C>G ENSP00000399851.2:n.2735-7C>G
ENST00000528881.2:c.332-7C>G
ENST00000530715.5:c.186-150C>G ENSP00000431395.1:n.186-150C>G
ENST00000631044.2:c.*2159-7C>G ENSP00000486730.1:n.*2159-7C>G
NM_001126131.1:c.2735-7C>G NP_001119603.1:n.2735-7C>G
NM_002693.2:c.2735-7C>G NP_002684.1:n.2735-7C>G
NM_001126131.2:c.2735-7C>G NP_001119603.1:n.2735-7C>G
NM_002693.3:c.2735-7C>G MANE Select NP_002684.1:n.2735-7C>G
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