Canonical Allele Identifier: CA393754732
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321841A>C , CM000677.2:g.89321841A>C GRCh38
NC_000015.9:g.89865072A>C , CM000677.1:g.89865072A>C GRCh37
NC_000015.8:g.87666076A>C NCBI36
NG_008218.1:g.17955T>G
NG_008218.2:g.17955T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2493T>G ENSP00000516154.1:p.Tyr831Ter
ENST00000268124.11:c.2493T>G MANE Select ENSP00000268124.5:p.Tyr831Ter
ENST00000530292.3:c.2094T>G ENSP00000432885.2:p.Tyr698Ter
ENST00000635986.2:c.2493T>G ENSP00000490653.2:p.Tyr831Ter
ENST00000636774.1:c.*1060T>G ENSP00000489799.1:n.*1060T>G
ENST00000637238.1:c.1190T>G ENSP00000490756.1:n.1190T>G
ENST00000637264.1:c.1565T>G
ENST00000666746.1:c.2070T>G
ENST00000670281.1:c.800+121T>G ENSP00000499709.1:n.800+121T>G
ENST00000672071.1:n.2691T>G
ENST00000672923.2:n.2435T>G
ENST00000268124.9:c.2493T>G ENSP00000268124.5:p.Tyr831Ter
ENST00000442287.6:c.2493T>G ENSP00000399851.2:p.Tyr831Ter
ENST00000528881.2:c.196-581T>G
ENST00000530715.5:c.185+901T>G ENSP00000431395.1:n.185+901T>G
ENST00000532584.5:n.642T>G
ENST00000631044.2:c.*1917T>G ENSP00000486730.1:n.*1917T>G
NM_001126131.1:c.2493T>G NP_001119603.1:p.Tyr831Ter
NM_002693.2:c.2493T>G NP_002684.1:p.Tyr831Ter
NM_001126131.2:c.2493T>G NP_001119603.1:p.Tyr831Ter
NM_002693.3:c.2493T>G MANE Select NP_002684.1:p.Tyr831Ter