Canonical Allele Identifier: CA393762898
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327341T>C , CM000677.2:g.89327341T>C GRCh38
NC_000015.9:g.89870572T>C , CM000677.1:g.89870572T>C GRCh37
NC_000015.8:g.87671576T>C NCBI36
NG_008218.1:g.12455A>G
NG_008218.2:g.12455A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.1259A>G ENSP00000516154.1:p.His420Arg
ENST00000268124.11:c.1259A>G MANE Select ENSP00000268124.5:p.His420Arg
ENST00000530292.3:c.860A>G ENSP00000432885.2:p.His287Arg
ENST00000635986.2:c.1259A>G ENSP00000490653.2:p.His420Arg
ENST00000636774.1:c.1259A>G ENSP00000489799.1:p.His420Arg
ENST00000637264.1:c.331A>G
ENST00000666746.1:c.836A>G
ENST00000672071.1:n.1457A>G
ENST00000672923.2:n.1362A>G
ENST00000268124.9:c.1259A>G ENSP00000268124.5:p.His420Arg
ENST00000442287.6:c.1259A>G ENSP00000399851.2:p.His420Arg
ENST00000532363.2:n.117A>G
ENST00000631044.2:c.*642A>G ENSP00000486730.1:n.*642A>G
NM_001126131.1:c.1259A>G NP_001119603.1:p.His420Arg
NM_002693.2:c.1259A>G NP_002684.1:p.His420Arg
NM_001126131.2:c.1259A>G NP_001119603.1:p.His420Arg
NM_002693.3:c.1259A>G MANE Select NP_002684.1:p.His420Arg