Canonical Allele Identifier: CA393759458
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2184198
ClinVar RCV Id: RCV002632178
dbSNP Id: rs1338200187

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325657T>C , CM000677.2:g.89325657T>C GRCh38
NC_000015.9:g.89868888T>C , CM000677.1:g.89868888T>C GRCh37
NC_000015.8:g.87669892T>C NCBI36
NG_008218.1:g.14139A>G
NG_008218.2:g.14139A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1742A>G ENSP00000516154.1:p.Asp581Gly
ENST00000268124.11:c.1742A>G MANE Select ENSP00000268124.5:p.Asp581Gly
ENST00000530292.3:c.1343A>G ENSP00000432885.2:p.Asp448Gly
ENST00000635986.2:c.1742A>G ENSP00000490653.2:p.Asp581Gly
ENST00000636774.1:c.*309A>G ENSP00000489799.1:n.*309A>G
ENST00000637238.1:c.479A>G ENSP00000490756.1:p.Asp160Gly
ENST00000637264.1:c.814A>G
ENST00000666746.1:c.1319A>G
ENST00000670281.1:c.62A>G ENSP00000499709.1:p.Asp21Gly
ENST00000672071.1:n.1940A>G
ENST00000672923.2:n.1845A>G
ENST00000268124.9:c.1742A>G ENSP00000268124.5:p.Asp581Gly
ENST00000442287.6:c.1742A>G ENSP00000399851.2:p.Asp581Gly
ENST00000526314.2:c.124A>G
ENST00000631044.2:c.*1125A>G ENSP00000486730.1:n.*1125A>G
NM_001126131.1:c.1742A>G NP_001119603.1:p.Asp581Gly
NM_002693.2:c.1742A>G NP_002684.1:p.Asp581Gly
NM_001126131.2:c.1742A>G NP_001119603.1:p.Asp581Gly
NM_002693.3:c.1742A>G MANE Select NP_002684.1:p.Asp581Gly