Canonical Allele Identifier: CA393759183
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325526G>T , CM000677.2:g.89325526G>T GRCh38
NC_000015.9:g.89868757G>T , CM000677.1:g.89868757G>T GRCh37
NC_000015.8:g.87669761G>T NCBI36
NG_008218.1:g.14270C>A
NG_008218.2:g.14270C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1873C>A ENSP00000516154.1:p.Pro625Thr
ENST00000268124.11:c.1873C>A MANE Select ENSP00000268124.5:p.Pro625Thr
ENST00000530292.3:c.1474C>A ENSP00000432885.2:p.Pro492Thr
ENST00000635986.2:c.1873C>A ENSP00000490653.2:p.Pro625Thr
ENST00000636774.1:c.*440C>A ENSP00000489799.1:n.*440C>A
ENST00000637238.1:c.610C>A ENSP00000490756.1:p.Pro204Thr
ENST00000637264.1:c.945C>A
ENST00000666746.1:c.1450C>A
ENST00000670281.1:c.193C>A ENSP00000499709.1:p.Pro65Thr
ENST00000672071.1:n.2071C>A
ENST00000672923.2:n.1976C>A
ENST00000268124.9:c.1873C>A ENSP00000268124.5:p.Pro625Thr
ENST00000442287.6:c.1873C>A ENSP00000399851.2:p.Pro625Thr
ENST00000526314.2:c.255C>A
ENST00000526398.1:c.62C>A
ENST00000532584.5:n.75C>A
ENST00000631044.2:c.*1256C>A ENSP00000486730.1:n.*1256C>A
NM_001126131.1:c.1873C>A NP_001119603.1:p.Pro625Thr
NM_002693.2:c.1873C>A NP_002684.1:p.Pro625Thr
NM_001126131.2:c.1873C>A NP_001119603.1:p.Pro625Thr
NM_002693.3:c.1873C>A MANE Select NP_002684.1:p.Pro625Thr