Canonical Allele Identifier: CA393756673
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2242T>C ENSP00000516154.1:p.Trp748Arg
ENST00000268124.11:c.2242T>C MANE Select ENSP00000268124.5:p.Trp748Arg
ENST00000530292.3:c.1843T>C ENSP00000432885.2:p.Trp615Arg
ENST00000635986.2:c.2242T>C ENSP00000490653.2:p.Trp748Arg
ENST00000636774.1:c.*809T>C ENSP00000489799.1:n.*809T>C
ENST00000637238.1:c.939T>C ENSP00000490756.1:n.939T>C
ENST00000637264.1:c.1314T>C
ENST00000666746.1:c.1819T>C
ENST00000670281.1:c.562T>C ENSP00000499709.1:p.Trp188Arg
ENST00000672071.1:n.2440T>C
ENST00000672923.2:n.2345T>C
ENST00000268124.9:c.2242T>C ENSP00000268124.5:p.Trp748Arg
ENST00000442287.6:c.2242T>C ENSP00000399851.2:p.Trp748Arg
ENST00000526314.2:c.539+388T>C
ENST00000526398.1:c.391T>C
ENST00000528881.2:c.11T>C
ENST00000530715.5:c.1T>C ENSP00000431395.1:p.Trp1Arg
ENST00000532584.5:n.444T>C
ENST00000631044.2:c.*1666T>C ENSP00000486730.1:n.*1666T>C
NM_001126131.1:c.2242T>C NP_001119603.1:p.Trp748Arg
NM_002693.2:c.2242T>C NP_002684.1:p.Trp748Arg
NM_001126131.2:c.2242T>C NP_001119603.1:p.Trp748Arg
NM_002693.3:c.2242T>C MANE Select NP_002684.1:p.Trp748Arg