Canonical Allele Identifier: CA393754341
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321768C>G , CM000677.2:g.89321768C>G GRCh38
NC_000015.9:g.89864999C>G , CM000677.1:g.89864999C>G GRCh37
NC_000015.8:g.87666003C>G NCBI36
NG_008218.1:g.18028G>C
NG_008218.2:g.18028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2566G>C ENSP00000516154.1:p.Glu856Gln
ENST00000268124.11:c.2566G>C MANE Select ENSP00000268124.5:p.Glu856Gln
ENST00000530292.3:c.2167G>C ENSP00000432885.2:p.Glu723Gln
ENST00000635986.2:c.2566G>C ENSP00000490653.2:p.Glu856Gln
ENST00000636774.1:c.*1133G>C ENSP00000489799.1:n.*1133G>C
ENST00000637238.1:c.1263G>C ENSP00000490756.1:n.1263G>C
ENST00000637264.1:c.1638G>C
ENST00000666746.1:c.2143G>C
ENST00000670281.1:c.800+194G>C ENSP00000499709.1:n.800+194G>C
ENST00000672071.1:n.2764G>C
ENST00000672923.2:n.2508G>C
ENST00000268124.9:c.2566G>C ENSP00000268124.5:p.Glu856Gln
ENST00000442287.6:c.2566G>C ENSP00000399851.2:p.Glu856Gln
ENST00000528881.2:c.196-508G>C
ENST00000530715.5:c.186-899G>C ENSP00000431395.1:n.186-899G>C
ENST00000631044.2:c.*1990G>C ENSP00000486730.1:n.*1990G>C
NM_001126131.1:c.2566G>C NP_001119603.1:p.Glu856Gln
NM_002693.2:c.2566G>C NP_002684.1:p.Glu856Gln
NM_001126131.2:c.2566G>C NP_001119603.1:p.Glu856Gln
NM_002693.3:c.2566G>C MANE Select NP_002684.1:p.Glu856Gln