Canonical Allele Identifier: CA393753264
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320991A>C , CM000677.2:g.89320991A>C GRCh38
NC_000015.9:g.89864222A>C , CM000677.1:g.89864222A>C GRCh37
NC_000015.8:g.87665226A>C NCBI36
NG_008218.1:g.18805T>G
NG_008218.2:g.18805T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2756T>G ENSP00000516154.1:p.Met919Arg
ENST00000268124.11:c.2756T>G MANE Select ENSP00000268124.5:p.Met919Arg
ENST00000530292.3:c.2357T>G ENSP00000432885.2:p.Met786Arg
ENST00000635986.2:c.2756T>G ENSP00000490653.2:p.Met919Arg
ENST00000636774.1:c.*1323T>G ENSP00000489799.1:n.*1323T>G
ENST00000637238.1:c.1565T>G ENSP00000490756.1:n.1565T>G
ENST00000637264.1:c.1828T>G
ENST00000666746.1:c.2333T>G
ENST00000670281.1:c.800+971T>G ENSP00000499709.1:n.800+971T>G
ENST00000672071.1:n.2954T>G
ENST00000672923.2:n.2698T>G
ENST00000268124.9:c.2756T>G ENSP00000268124.5:p.Met919Arg
ENST00000442287.6:c.2756T>G ENSP00000399851.2:p.Met919Arg
ENST00000528881.2:c.353T>G
ENST00000530715.5:c.186-122T>G ENSP00000431395.1:n.186-122T>G
ENST00000631044.2:c.*2180T>G ENSP00000486730.1:n.*2180T>G
NM_001126131.1:c.2756T>G NP_001119603.1:p.Met919Arg
NM_002693.2:c.2756T>G NP_002684.1:p.Met919Arg
NM_001126131.2:c.2756T>G NP_001119603.1:p.Met919Arg
NM_002693.3:c.2756T>G MANE Select NP_002684.1:p.Met919Arg