Canonical Allele Identifier: CA7724864
Gene: POLG HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89327166C>T
GRCh37 chr15:g.89870397C>T
gnomAD v2:
15:89870397 C / T
gnomAD v3:
15:89327166 C / T
gnomAD v4:
chr15-89327166-C-T
Joint Max Group AF 0.0000815 (AFR)
Genomes Max Group AF 0.00004736 (AFR)
Exomes Max Group AF 0.00007712 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327166C>T , CM000677.2:g.89327166C>T GRCh38
NC_000015.9:g.89870397C>T , CM000677.1:g.89870397C>T GRCh37
NC_000015.8:g.87671401C>T NCBI36
NG_008218.1:g.12630G>A
NG_008218.2:g.12630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1433+1G>A ENSP00000516154.1:n.1433+1G>A
ENST00000268124.11:c.1433+1G>A MANE Select ENSP00000268124.5:n.1433+1G>A
ENST00000530292.3:c.1034+1G>A ENSP00000432885.2:n.1034+1G>A
ENST00000635986.2:c.1433+1G>A ENSP00000490653.2:n.1433+1G>A
ENST00000636774.1:c.1433+1G>A ENSP00000489799.1:n.1433+1G>A
ENST00000637238.1:c.170+1G>A ENSP00000490756.1:n.170+1G>A
ENST00000637264.1:c.505+1G>A
ENST00000666746.1:c.1010+1G>A
ENST00000672071.1:n.1631+1G>A
ENST00000672923.2:n.1536+1G>A
ENST00000268124.9:c.1433+1G>A ENSP00000268124.5:n.1433+1G>A
ENST00000442287.6:c.1433+1G>A ENSP00000399851.2:n.1433+1G>A
ENST00000532363.2:n.292G>A
ENST00000631044.2:c.*816+1G>A ENSP00000486730.1:n.*816+1G>A
NM_001126131.1:c.1433+1G>A NP_001119603.1:n.1433+1G>A
NM_002693.2:c.1433+1G>A NP_002684.1:n.1433+1G>A
NM_001126131.2:c.1433+1G>A NP_001119603.1:n.1433+1G>A
NM_002693.3:c.1433+1G>A MANE Select NP_002684.1:n.1433+1G>A
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