Canonical Allele Identifier: CA7724424
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 619421
dbSNP Id: rs759128787

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321761G>A , CM000677.2:g.89321761G>A GRCh38
NC_000015.9:g.89864992G>A , CM000677.1:g.89864992G>A GRCh37
NC_000015.8:g.87665996G>A NCBI36
NG_008218.1:g.18035C>T
NG_008218.2:g.18035C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2573C>T ENSP00000516154.1:p.Thr858Ile
ENST00000268124.11:c.2573C>T MANE Select ENSP00000268124.5:p.Thr858Ile
ENST00000530292.3:c.2174C>T ENSP00000432885.2:p.Thr725Ile
ENST00000635986.2:c.2573C>T ENSP00000490653.2:p.Thr858Ile
ENST00000636774.1:c.*1140C>T ENSP00000489799.1:n.*1140C>T
ENST00000637238.1:c.1270C>T ENSP00000490756.1:n.1270C>T
ENST00000637264.1:c.1645C>T
ENST00000666746.1:c.2150C>T
ENST00000670281.1:c.800+201C>T ENSP00000499709.1:n.800+201C>T
ENST00000672071.1:n.2771C>T
ENST00000672923.2:n.2515C>T
ENST00000268124.9:c.2573C>T ENSP00000268124.5:p.Thr858Ile
ENST00000442287.6:c.2573C>T ENSP00000399851.2:p.Thr858Ile
ENST00000528881.2:c.196-501C>T
ENST00000530715.5:c.186-892C>T ENSP00000431395.1:n.186-892C>T
ENST00000631044.2:c.*1997C>T ENSP00000486730.1:n.*1997C>T
NM_001126131.1:c.2573C>T NP_001119603.1:p.Thr858Ile
NM_002693.2:c.2573C>T NP_002684.1:p.Thr858Ile
NM_001126131.2:c.2573C>T NP_001119603.1:p.Thr858Ile
NM_002693.3:c.2573C>T MANE Select NP_002684.1:p.Thr858Ile