Canonical Allele Identifier: CA2194550665
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325678C= , CM000677.2:g.89325678C= GRCh38
NC_000015.9:g.89868909C= , CM000677.1:g.89868909C= GRCh37
NC_000015.8:g.87669913C= NCBI36
NG_008218.1:g.14118G=
NG_008218.2:g.14118G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1721G= ENSP00000516154.1:p.Arg574=
ENST00000268124.11:c.1721G= MANE Select ENSP00000268124.5:p.Arg574=
ENST00000530292.3:c.1322G= ENSP00000432885.2:p.Arg441=
ENST00000635986.2:c.1721G= ENSP00000490653.2:p.Arg574=
ENST00000636774.1:c.*288G= ENSP00000489799.1:n.*288G=
ENST00000637238.1:c.458G= ENSP00000490756.1:p.Arg153=
ENST00000637264.1:c.793G=
ENST00000666746.1:c.1298G=
ENST00000670281.1:c.41G= ENSP00000499709.1:p.Arg14=
ENST00000672071.1:n.1919G=
ENST00000672923.2:n.1824G=
ENST00000268124.9:c.1721G= ENSP00000268124.5:p.Arg574=
ENST00000442287.6:c.1721G= ENSP00000399851.2:p.Arg574=
ENST00000526314.2:c.103G=
ENST00000631044.2:c.*1104G= ENSP00000486730.1:n.*1104G=
NM_001126131.1:c.1721G= NP_001119603.1:p.Arg574=
NM_002693.2:c.1721G= NP_002684.1:p.Arg574=
NM_001126131.2:c.1721G= NP_001119603.1:p.Arg574=
NM_002693.3:c.1721G= MANE Select NP_002684.1:p.Arg574=