Canonical Allele Identifier: CA2194549886
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325488A= , CM000677.2:g.89325488A= GRCh38
NC_000015.9:g.89868719A= , CM000677.1:g.89868719A= GRCh37
NC_000015.8:g.87669723A= NCBI36
NG_008218.1:g.14308T=
NG_008218.2:g.14308T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1911T= ENSP00000516154.1:p.Gly637=
ENST00000268124.11:c.1911T= MANE Select ENSP00000268124.5:p.Gly637=
ENST00000530292.3:c.1512T= ENSP00000432885.2:p.Gly504=
ENST00000635986.2:c.1911T= ENSP00000490653.2:p.Gly637=
ENST00000636774.1:c.*478T= ENSP00000489799.1:n.*478T=
ENST00000637238.1:c.646+2T= ENSP00000490756.1:n.646+2T=
ENST00000637264.1:c.983T=
ENST00000666746.1:c.1488T=
ENST00000670281.1:c.231T= ENSP00000499709.1:p.Gly77=
ENST00000672071.1:n.2109T=
ENST00000672923.2:n.2014T=
ENST00000268124.9:c.1911T= ENSP00000268124.5:p.Gly637=
ENST00000442287.6:c.1911T= ENSP00000399851.2:p.Gly637=
ENST00000526314.2:c.293T=
ENST00000526398.1:c.100T=
ENST00000532584.5:n.113T=
ENST00000631044.2:c.*1294T= ENSP00000486730.1:n.*1294T=
NM_001126131.1:c.1911T= NP_001119603.1:p.Gly637=
NM_002693.2:c.1911T= NP_002684.1:p.Gly637=
NM_001126131.2:c.1911T= NP_001119603.1:p.Gly637=
NM_002693.3:c.1911T= MANE Select NP_002684.1:p.Gly637=