Canonical Allele Identifier: CA393754534
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321812A>C , CM000677.2:g.89321812A>C GRCh38
NC_000015.9:g.89865043A>C , CM000677.1:g.89865043A>C GRCh37
NC_000015.8:g.87666047A>C NCBI36
NG_008218.1:g.17984T>G
NG_008218.2:g.17984T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2522T>G ENSP00000516154.1:p.Leu841Arg
ENST00000268124.11:c.2522T>G MANE Select ENSP00000268124.5:p.Leu841Arg
ENST00000530292.3:c.2123T>G ENSP00000432885.2:p.Leu708Arg
ENST00000635986.2:c.2522T>G ENSP00000490653.2:p.Leu841Arg
ENST00000636774.1:c.*1089T>G ENSP00000489799.1:n.*1089T>G
ENST00000637238.1:c.1219T>G ENSP00000490756.1:n.1219T>G
ENST00000637264.1:c.1594T>G
ENST00000666746.1:c.2099T>G
ENST00000670281.1:c.800+150T>G ENSP00000499709.1:n.800+150T>G
ENST00000672071.1:n.2720T>G
ENST00000672923.2:n.2464T>G
ENST00000268124.9:c.2522T>G ENSP00000268124.5:p.Leu841Arg
ENST00000442287.6:c.2522T>G ENSP00000399851.2:p.Leu841Arg
ENST00000528881.2:c.196-552T>G
ENST00000530715.5:c.185+930T>G ENSP00000431395.1:n.185+930T>G
ENST00000532584.5:n.671T>G
ENST00000631044.2:c.*1946T>G ENSP00000486730.1:n.*1946T>G
NM_001126131.1:c.2522T>G NP_001119603.1:p.Leu841Arg
NM_002693.2:c.2522T>G NP_002684.1:p.Leu841Arg
NM_001126131.2:c.2522T>G NP_001119603.1:p.Leu841Arg
NM_002693.3:c.2522T>G MANE Select NP_002684.1:p.Leu841Arg