Canonical Allele Identifier: CA209652
Gene: POLG HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89328996G>T
GRCh37 chr15:g.89872227G>T
Revel Score:
ENST00000268124 (MANE Select) 0.251
ENST00000442287 0.251
gnomAD v2:
15:89872227 G / T
gnomAD v3:
15:89328996 G / T
gnomAD v4:
chr15-89328996-G-T
Joint Max Group AF 0.00011126 (NFE)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.0001101 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328996G>T , CM000677.2:g.89328996G>T GRCh38
NC_000015.9:g.89872227G>T , CM000677.1:g.89872227G>T GRCh37
NC_000015.8:g.87673231G>T NCBI36
NG_008218.1:g.10800C>A
NG_008218.2:g.10800C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.970C>A ENSP00000516154.1:p.Pro324Thr
ENST00000268124.11:c.970C>A MANE Select ENSP00000268124.5:p.Pro324Thr
ENST00000530292.3:c.571C>A ENSP00000432885.2:p.Pro191Thr
ENST00000635986.2:c.970C>A ENSP00000490653.2:p.Pro324Thr
ENST00000636774.1:c.970C>A ENSP00000489799.1:p.Pro324Thr
ENST00000637264.1:c.42C>A
ENST00000666746.1:c.627C>A
ENST00000672071.1:n.1168C>A
ENST00000268124.9:c.970C>A ENSP00000268124.5:p.Pro324Thr
ENST00000442287.6:c.970C>A ENSP00000399851.2:p.Pro324Thr
ENST00000631044.2:c.*353C>A ENSP00000486730.1:n.*353C>A
NM_001126131.1:c.970C>A NP_001119603.1:p.Pro324Thr
NM_002693.2:c.970C>A NP_002684.1:p.Pro324Thr
NM_001126131.2:c.970C>A NP_001119603.1:p.Pro324Thr
NM_002693.3:c.970C>A MANE Select NP_002684.1:p.Pro324Thr
Search 100 bp 5'
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