Canonical Allele Identifier: CA316685
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 206520
dbSNP Id: rs202037973

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323423A>G , CM000677.2:g.89323423A>G GRCh38
NC_000015.9:g.89866654A>G , CM000677.1:g.89866654A>G GRCh37
NC_000015.8:g.87667658A>G NCBI36
NG_008218.1:g.16373T>C
NG_008218.2:g.16373T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2246T>C ENSP00000516154.1:p.Phe749Ser
ENST00000268124.11:c.2246T>C MANE Select ENSP00000268124.5:p.Phe749Ser
ENST00000530292.3:c.1847T>C ENSP00000432885.2:p.Phe616Ser
ENST00000635986.2:c.2246T>C ENSP00000490653.2:p.Phe749Ser
ENST00000636774.1:c.*813T>C ENSP00000489799.1:n.*813T>C
ENST00000637238.1:c.943T>C ENSP00000490756.1:n.943T>C
ENST00000637264.1:c.1318T>C
ENST00000666746.1:c.1823T>C
ENST00000670281.1:c.566T>C ENSP00000499709.1:p.Phe189Ser
ENST00000672071.1:n.2444T>C
ENST00000672923.2:n.2349T>C
ENST00000268124.9:c.2246T>C ENSP00000268124.5:p.Phe749Ser
ENST00000442287.6:c.2246T>C ENSP00000399851.2:p.Phe749Ser
ENST00000526314.2:c.539+392T>C
ENST00000526398.1:c.395T>C
ENST00000528881.2:c.15T>C
ENST00000530715.5:c.5T>C ENSP00000431395.1:p.Phe2Ser
ENST00000532584.5:n.448T>C
ENST00000631044.2:c.*1670T>C ENSP00000486730.1:n.*1670T>C
NM_001126131.1:c.2246T>C NP_001119603.1:p.Phe749Ser
NM_002693.2:c.2246T>C NP_002684.1:p.Phe749Ser
NM_001126131.2:c.2246T>C NP_001119603.1:p.Phe749Ser
NM_002693.3:c.2246T>C MANE Select NP_002684.1:p.Phe749Ser