Canonical Allele Identifier: CA393756672
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323427A>C , CM000677.2:g.89323427A>C GRCh38
NC_000015.9:g.89866658A>C , CM000677.1:g.89866658A>C GRCh37
NC_000015.8:g.87667662A>C NCBI36
NG_008218.1:g.16369T>G
NG_008218.2:g.16369T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2242T>G ENSP00000516154.1:p.Trp748Gly
ENST00000268124.11:c.2242T>G MANE Select ENSP00000268124.5:p.Trp748Gly
ENST00000530292.3:c.1843T>G ENSP00000432885.2:p.Trp615Gly
ENST00000635986.2:c.2242T>G ENSP00000490653.2:p.Trp748Gly
ENST00000636774.1:c.*809T>G ENSP00000489799.1:n.*809T>G
ENST00000637238.1:c.939T>G ENSP00000490756.1:n.939T>G
ENST00000637264.1:c.1314T>G
ENST00000666746.1:c.1819T>G
ENST00000670281.1:c.562T>G ENSP00000499709.1:p.Trp188Gly
ENST00000672071.1:n.2440T>G
ENST00000672923.2:n.2345T>G
ENST00000268124.9:c.2242T>G ENSP00000268124.5:p.Trp748Gly
ENST00000442287.6:c.2242T>G ENSP00000399851.2:p.Trp748Gly
ENST00000526314.2:c.539+388T>G
ENST00000526398.1:c.391T>G
ENST00000528881.2:c.11T>G
ENST00000530715.5:c.1T>G ENSP00000431395.1:p.Trp1Gly
ENST00000532584.5:n.444T>G
ENST00000631044.2:c.*1666T>G ENSP00000486730.1:n.*1666T>G
NM_001126131.1:c.2242T>G NP_001119603.1:p.Trp748Gly
NM_002693.2:c.2242T>G NP_002684.1:p.Trp748Gly
NM_001126131.2:c.2242T>G NP_001119603.1:p.Trp748Gly
NM_002693.3:c.2242T>G MANE Select NP_002684.1:p.Trp748Gly