Canonical Allele Identifier: CA241475
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

ClinVar Variation Id: 21318
dbSNP Id: rs3176162

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333177C>T , CM000677.2:g.89333177C>T GRCh38
NC_000015.9:g.89876408C>T , CM000677.1:g.89876408C>T GRCh37
NC_000015.8:g.87677412C>T NCBI36
NG_008218.1:g.6619G>A
NG_008218.2:g.6619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.578G>A (POLG) ENSP00000516154.1:p.Arg193Gln
ENST00000706918.1:c.633G>A (POLGARF) ENSP00000516626.1:p.Ala211=
ENST00000268124.11:c.578G>A (POLG) MANE Select ENSP00000268124.5:p.Arg193Gln
ENST00000530292.3:c.179G>A (POLG) ENSP00000432885.2:p.Arg60Gln
ENST00000635986.2:c.578G>A (POLG) ENSP00000490653.2:p.Arg193Gln
ENST00000636774.1:c.578G>A (POLG) ENSP00000489799.1:p.Arg193Gln
ENST00000650303.2:c.633G>A (POLG) ENSP00000497242.2:p.Ala211=
ENST00000666746.1:c.235G>A (POLG)
ENST00000672071.1:n.776G>A (POLG)
ENST00000268124.9:c.578G>A (POLG) ENSP00000268124.5:p.Arg193Gln
ENST00000442287.6:c.578G>A (POLG) ENSP00000399851.2:p.Arg193Gln
ENST00000631044.2:c.578G>A (POLG) ENSP00000486730.1:p.Arg193Gln
NM_001126131.1:c.578G>A (POLG) NP_001119603.1:p.Arg193Gln
NM_002693.2:c.578G>A (POLG) NP_002684.1:p.Arg193Gln
NM_001126131.2:c.578G>A (POLG) NP_001119603.1:p.Arg193Gln
NM_002693.3:c.578G>A (POLG) MANE Select NP_002684.1:p.Arg193Gln