Canonical Allele Identifier: CA274556200
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2185528
ClinVar RCV Id: RCV002596191
dbSNP Id: rs963293292

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89326996T>C , CM000677.2:g.89326996T>C GRCh38
NC_000015.9:g.89870227T>C , CM000677.1:g.89870227T>C GRCh37
NC_000015.8:g.87671231T>C NCBI36
NG_008218.1:g.12800A>G
NG_008218.2:g.12800A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1501A>G ENSP00000516154.1:p.Lys501Glu
ENST00000268124.11:c.1501A>G MANE Select ENSP00000268124.5:p.Lys501Glu
ENST00000530292.3:c.1102A>G ENSP00000432885.2:p.Lys368Glu
ENST00000635986.2:c.1501A>G ENSP00000490653.2:p.Lys501Glu
ENST00000636774.1:c.*68A>G ENSP00000489799.1:n.*68A>G
ENST00000637238.1:c.238A>G ENSP00000490756.1:p.Lys80Glu
ENST00000637264.1:c.573A>G
ENST00000666746.1:c.1078A>G
ENST00000672071.1:n.1699A>G
ENST00000672923.2:n.1604A>G
ENST00000268124.9:c.1501A>G ENSP00000268124.5:p.Lys501Glu
ENST00000442287.6:c.1501A>G ENSP00000399851.2:p.Lys501Glu
ENST00000631044.2:c.*884A>G ENSP00000486730.1:n.*884A>G
NM_001126131.1:c.1501A>G NP_001119603.1:p.Lys501Glu
NM_002693.2:c.1501A>G NP_002684.1:p.Lys501Glu
NM_001126131.2:c.1501A>G NP_001119603.1:p.Lys501Glu
NM_002693.3:c.1501A>G MANE Select NP_002684.1:p.Lys501Glu