Canonical Allele Identifier: CA393765393
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1967845
ClinVar RCV Id: RCV002727061

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328959G>A , CM000677.2:g.89328959G>A GRCh38
NC_000015.9:g.89872190G>A , CM000677.1:g.89872190G>A GRCh37
NC_000015.8:g.87673194G>A NCBI36
NG_008218.1:g.10837C>T
NG_008218.2:g.10837C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1007C>T ENSP00000516154.1:p.Ala336Val
ENST00000268124.11:c.1007C>T MANE Select ENSP00000268124.5:p.Ala336Val
ENST00000530292.3:c.608C>T ENSP00000432885.2:p.Ala203Val
ENST00000635986.2:c.1007C>T ENSP00000490653.2:p.Ala336Val
ENST00000636774.1:c.1007C>T ENSP00000489799.1:p.Ala336Val
ENST00000637264.1:c.79C>T
ENST00000666746.1:c.664C>T
ENST00000672071.1:n.1205C>T
ENST00000672923.2:n.4C>T
ENST00000268124.9:c.1007C>T ENSP00000268124.5:p.Ala336Val
ENST00000442287.6:c.1007C>T ENSP00000399851.2:p.Ala336Val
ENST00000631044.2:c.*390C>T ENSP00000486730.1:n.*390C>T
NM_001126131.1:c.1007C>T NP_001119603.1:p.Ala336Val
NM_002693.2:c.1007C>T NP_002684.1:p.Ala336Val
NM_001126131.2:c.1007C>T NP_001119603.1:p.Ala336Val
NM_002693.3:c.1007C>T MANE Select NP_002684.1:p.Ala336Val