Canonical Allele Identifier: CA292876
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 21309
ClinVar RCV Id: RCV000020472 RCV000127562 RCV000473794 RCV001711075 RCV002311516
dbSNP Id: rs2307447
ExAC: 15:89869919 G / A
gnomAD v2: 15-89869919-G-A
gnomAD v3: 15-89326688-G-A
gnomAD v4: 15-89326688-G-A
MyVariant Identifiers: chr15:g.89869919G>A (hg19) chr15:g.89326688G>A (hg38)
ERepo: CA292876/MONDO:0044970/014
PubMed: PMID:20301791
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89326688G>A , CM000677.2:g.89326688G>A GRCh38
NC_000015.9:g.89869919G>A , CM000677.1:g.89869919G>A GRCh37
NC_000015.8:g.87670923G>A NCBI36
NG_008218.1:g.13108C>T
NG_008218.2:g.13108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1636C>T ENSP00000516154.1:p.Arg546Cys
ENST00000268124.11:c.1636C>T MANE Select ENSP00000268124.5:p.Arg546Cys
ENST00000530292.3:c.1237C>T ENSP00000432885.2:p.Arg413Cys
ENST00000635986.2:c.1636C>T ENSP00000490653.2:p.Arg546Cys
ENST00000636774.1:c.*203C>T ENSP00000489799.1:n.*203C>T
ENST00000637238.1:c.373C>T ENSP00000490756.1:p.Arg125Cys
ENST00000637264.1:c.708C>T
ENST00000666746.1:c.1213C>T
ENST00000672071.1:n.1834C>T
ENST00000672923.2:n.1739C>T
ENST00000268124.9:c.1636C>T ENSP00000268124.5:p.Arg546Cys
ENST00000442287.6:c.1636C>T ENSP00000399851.2:p.Arg546Cys
ENST00000526314.2:c.18C>T
ENST00000631044.2:c.*1019C>T ENSP00000486730.1:n.*1019C>T
NM_001126131.1:c.1636C>T NP_001119603.1:p.Arg546Cys
NM_002693.2:c.1636C>T NP_002684.1:p.Arg546Cys
NM_001126131.2:c.1636C>T NP_001119603.1:p.Arg546Cys
NM_002693.3:c.1636C>T MANE Select NP_002684.1:p.Arg546Cys
Search 100 bp 5'
Search 100 bp 3'