Canonical Allele Identifier: CA2194561644
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328734C= , CM000677.2:g.89328734C= GRCh38
NC_000015.9:g.89871965C= , CM000677.1:g.89871965C= GRCh37
NC_000015.8:g.87672969C= NCBI36
NG_008218.1:g.11062G=
NG_008218.2:g.11062G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1121G= ENSP00000516154.1:p.Arg374=
ENST00000268124.11:c.1121G= MANE Select ENSP00000268124.5:p.Arg374=
ENST00000530292.3:c.722G= ENSP00000432885.2:p.Arg241=
ENST00000635986.2:c.1121G= ENSP00000490653.2:p.Arg374=
ENST00000636774.1:c.1121G= ENSP00000489799.1:p.Arg374=
ENST00000637264.1:c.193G=
ENST00000666746.1:c.778G=
ENST00000672071.1:n.1319G=
ENST00000672923.2:n.118G=
ENST00000268124.9:c.1121G= ENSP00000268124.5:p.Arg374=
ENST00000442287.6:c.1121G= ENSP00000399851.2:p.Arg374=
ENST00000631044.2:c.*504G= ENSP00000486730.1:n.*504G=
NM_001126131.1:c.1121G= NP_001119603.1:p.Arg374=
NM_002693.2:c.1121G= NP_002684.1:p.Arg374=
NM_001126131.2:c.1121G= NP_001119603.1:p.Arg374=
NM_002693.3:c.1121G= MANE Select NP_002684.1:p.Arg374=