Canonical Allele Identifier: CA10647470
Gene: POLG HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89333834G>A
GRCh37 chr15:g.89877065G>A
gnomAD v2:
15:89877065 G / A
gnomAD v3:
15:89333834 G / A
gnomAD v4:
chr15-89333834-G-A
Joint Max Group AF 0.0076997 (NFE)
Genomes Max Group AF 0.00709887 (NFE)
Exomes Max Group AF 0.00770757 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333834G>A , CM000677.2:g.89333834G>A GRCh38
NC_000015.9:g.89877065G>A , CM000677.1:g.89877065G>A GRCh37
NC_000015.8:g.87678069G>A NCBI36
NG_008218.1:g.5962C>T
NG_008218.2:g.5962C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.-73-7C>T ENSP00000516154.1:n.-73-7C>T
ENST00000268124.11:c.-80C>T MANE Select ENSP00000268124.5:n.-80C>T
ENST00000635986.2:c.-80C>T ENSP00000490653.2:n.-80C>T
ENST00000636774.1:c.-80C>T ENSP00000489799.1:n.-80C>T
ENST00000636937.1:n.66-7C>T
ENST00000672071.1:n.119C>T
ENST00000268124.9:c.-80C>T ENSP00000268124.5:n.-80C>T
ENST00000442287.6:c.-80C>T ENSP00000399851.2:n.-80C>T
ENST00000631044.2:c.-80C>T ENSP00000486730.1:n.-80C>T
NM_001126131.1:c.-80C>T NP_001119603.1:n.-80C>T
NM_002693.2:c.-80C>T NP_002684.1:n.-80C>T
NM_001126131.2:c.-80C>T NP_001119603.1:n.-80C>T
NM_002693.3:c.-80C>T MANE Select NP_002684.1:n.-80C>T
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