Canonical Allele Identifier: CA393756687
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323433C>G , CM000677.2:g.89323433C>G GRCh38
NC_000015.9:g.89866664C>G , CM000677.1:g.89866664C>G GRCh37
NC_000015.8:g.87667668C>G NCBI36
NG_008218.1:g.16363G>C
NG_008218.2:g.16363G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2236G>C ENSP00000516154.1:p.Gly746Arg
ENST00000268124.11:c.2236G>C MANE Select ENSP00000268124.5:p.Gly746Arg
ENST00000530292.3:c.1837G>C ENSP00000432885.2:p.Gly613Arg
ENST00000635986.2:c.2236G>C ENSP00000490653.2:p.Gly746Arg
ENST00000636774.1:c.*803G>C ENSP00000489799.1:n.*803G>C
ENST00000637238.1:c.933G>C ENSP00000490756.1:n.933G>C
ENST00000637264.1:c.1308G>C
ENST00000666746.1:c.1813G>C
ENST00000670281.1:c.556G>C ENSP00000499709.1:p.Gly186Arg
ENST00000672071.1:n.2434G>C
ENST00000672923.2:n.2339G>C
ENST00000268124.9:c.2236G>C ENSP00000268124.5:p.Gly746Arg
ENST00000442287.6:c.2236G>C ENSP00000399851.2:p.Gly746Arg
ENST00000526314.2:c.539+382G>C
ENST00000526398.1:c.385G>C
ENST00000528881.2:c.5G>C
ENST00000532584.5:n.438G>C
ENST00000631044.2:c.*1660G>C ENSP00000486730.1:n.*1660G>C
NM_001126131.1:c.2236G>C NP_001119603.1:p.Gly746Arg
NM_002693.2:c.2236G>C NP_002684.1:p.Gly746Arg
NM_001126131.2:c.2236G>C NP_001119603.1:p.Gly746Arg
NM_002693.3:c.2236G>C MANE Select NP_002684.1:p.Gly746Arg