Canonical Allele Identifier: CA7724420
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 431952
dbSNP Id: rs778429780

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321750C>T , CM000677.2:g.89321750C>T GRCh38
NC_000015.9:g.89864981C>T , CM000677.1:g.89864981C>T GRCh37
NC_000015.8:g.87665985C>T NCBI36
NG_008218.1:g.18046G>A
NG_008218.2:g.18046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2584G>A ENSP00000516154.1:p.Ala862Thr
ENST00000268124.11:c.2584G>A MANE Select ENSP00000268124.5:p.Ala862Thr
ENST00000530292.3:c.2185G>A ENSP00000432885.2:p.Ala729Thr
ENST00000635986.2:c.2584G>A ENSP00000490653.2:p.Ala862Thr
ENST00000636774.1:c.*1151G>A ENSP00000489799.1:n.*1151G>A
ENST00000637238.1:c.1281G>A ENSP00000490756.1:n.1281G>A
ENST00000637264.1:c.1656G>A
ENST00000666746.1:c.2161G>A
ENST00000670281.1:c.800+212G>A ENSP00000499709.1:n.800+212G>A
ENST00000672071.1:n.2782G>A
ENST00000672923.2:n.2526G>A
ENST00000268124.9:c.2584G>A ENSP00000268124.5:p.Ala862Thr
ENST00000442287.6:c.2584G>A ENSP00000399851.2:p.Ala862Thr
ENST00000528881.2:c.196-490G>A
ENST00000530715.5:c.186-881G>A ENSP00000431395.1:n.186-881G>A
ENST00000631044.2:c.*2008G>A ENSP00000486730.1:n.*2008G>A
NM_001126131.1:c.2584G>A NP_001119603.1:p.Ala862Thr
NM_002693.2:c.2584G>A NP_002684.1:p.Ala862Thr
NM_001126131.2:c.2584G>A NP_001119603.1:p.Ala862Thr
NM_002693.3:c.2584G>A MANE Select NP_002684.1:p.Ala862Thr