Canonical Allele Identifier: CA393753500
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321142T>C , CM000677.2:g.89321142T>C GRCh38
NC_000015.9:g.89864373T>C , CM000677.1:g.89864373T>C GRCh37
NC_000015.8:g.87665377T>C NCBI36
NG_008218.1:g.18654A>G
NG_008218.2:g.18654A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2717A>G ENSP00000516154.1:p.His906Arg
ENST00000268124.11:c.2717A>G MANE Select ENSP00000268124.5:p.His906Arg
ENST00000530292.3:c.2318A>G ENSP00000432885.2:p.His773Arg
ENST00000635986.2:c.2717A>G ENSP00000490653.2:p.His906Arg
ENST00000636774.1:c.*1284A>G ENSP00000489799.1:n.*1284A>G
ENST00000637238.1:c.1414A>G ENSP00000490756.1:n.1414A>G
ENST00000637264.1:c.1789A>G
ENST00000666746.1:c.2294A>G
ENST00000670281.1:c.800+820A>G ENSP00000499709.1:n.800+820A>G
ENST00000672071.1:n.2915A>G
ENST00000672923.2:n.2659A>G
ENST00000268124.9:c.2717A>G ENSP00000268124.5:p.His906Arg
ENST00000442287.6:c.2717A>G ENSP00000399851.2:p.His906Arg
ENST00000528881.2:c.314A>G
ENST00000530715.5:c.186-273A>G ENSP00000431395.1:n.186-273A>G
ENST00000631044.2:c.*2141A>G ENSP00000486730.1:n.*2141A>G
NM_001126131.1:c.2717A>G NP_001119603.1:p.His906Arg
NM_002693.2:c.2717A>G NP_002684.1:p.His906Arg
NM_001126131.2:c.2717A>G NP_001119603.1:p.His906Arg
NM_002693.3:c.2717A>G MANE Select NP_002684.1:p.His906Arg