Canonical Allele Identifier: CA7724884
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 458687
dbSNP Id: rs775576189

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327324C>T , CM000677.2:g.89327324C>T GRCh38
NC_000015.9:g.89870555C>T , CM000677.1:g.89870555C>T GRCh37
NC_000015.8:g.87671559C>T NCBI36
NG_008218.1:g.12472G>A
NG_008218.2:g.12472G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268124.11:c.1276G>A MANE Select ENSP00000268124.5:p.Gly426Ser
ENST00000530292.3:n.877G>A ENSP00000432885.2:p.Gly293Ser
ENST00000635986.2:c.1276G>A ENSP00000490653.2:p.Gly426Ser
ENST00000636774.1:c.1276G>A ENSP00000489799.1:p.Gly426Ser
ENST00000637238.1:n.13G>A ENSP00000490756.1:p.Gly5Ser
ENST00000637264.1:n.348G>A
ENST00000666746.1:n.853G>A
ENST00000672071.1:n.1474G>A
ENST00000672923.2:n.1379G>A
ENST00000268124.9:c.1276G>A ENSP00000268124.5:p.Gly426Ser
ENST00000442287.6:c.1276G>A ENSP00000399851.2:p.Gly426Ser
ENST00000532363.2:n.134G>A
ENST00000631044.2:c.*659G>A ENSP00000486730.1:p.=
NM_001126131.1:c.1276G>A NP_001119603.1:p.Gly426Ser
NM_002693.2:c.1276G>A NP_002684.1:p.Gly426Ser
NM_001126131.2:c.1276G>A NP_001119603.1:p.Gly426Ser
NM_002693.3:c.1276G>A MANE Select NP_002684.1:p.Gly426Ser