Canonical Allele Identifier: CA2194550533
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325644C= , CM000677.2:g.89325644C= GRCh38
NC_000015.9:g.89868875C= , CM000677.1:g.89868875C= GRCh37
NC_000015.8:g.87669879C= NCBI36
NG_008218.1:g.14152G=
NG_008218.2:g.14152G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1755G= ENSP00000516154.1:p.Trp585=
ENST00000268124.11:c.1755G= MANE Select ENSP00000268124.5:p.Trp585=
ENST00000530292.3:c.1356G= ENSP00000432885.2:p.Trp452=
ENST00000635986.2:c.1755G= ENSP00000490653.2:p.Trp585=
ENST00000636774.1:c.*322G= ENSP00000489799.1:n.*322G=
ENST00000637238.1:c.492G= ENSP00000490756.1:p.Trp164=
ENST00000637264.1:c.827G=
ENST00000666746.1:c.1332G=
ENST00000670281.1:c.75G= ENSP00000499709.1:p.Trp25=
ENST00000672071.1:n.1953G=
ENST00000672923.2:n.1858G=
ENST00000268124.9:c.1755G= ENSP00000268124.5:p.Trp585=
ENST00000442287.6:c.1755G= ENSP00000399851.2:p.Trp585=
ENST00000526314.2:c.137G=
ENST00000631044.2:c.*1138G= ENSP00000486730.1:n.*1138G=
NM_001126131.1:c.1755G= NP_001119603.1:p.Trp585=
NM_002693.2:c.1755G= NP_002684.1:p.Trp585=
NM_001126131.2:c.1755G= NP_001119603.1:p.Trp585=
NM_002693.3:c.1755G= MANE Select NP_002684.1:p.Trp585=