Canonical Allele Identifier: CA2194550329
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325589C= , CM000677.2:g.89325589C= GRCh38
NC_000015.9:g.89868820C= , CM000677.1:g.89868820C= GRCh37
NC_000015.8:g.87669824C= NCBI36
NG_008218.1:g.14207G=
NG_008218.2:g.14207G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1810G= ENSP00000516154.1:p.Ala604=
ENST00000268124.11:c.1810G= MANE Select ENSP00000268124.5:p.Ala604=
ENST00000530292.3:c.1411G= ENSP00000432885.2:p.Ala471=
ENST00000635986.2:c.1810G= ENSP00000490653.2:p.Ala604=
ENST00000636774.1:c.*377G= ENSP00000489799.1:n.*377G=
ENST00000637238.1:c.547G= ENSP00000490756.1:p.Ala183=
ENST00000637264.1:c.882G=
ENST00000666746.1:c.1387G=
ENST00000670281.1:c.130G= ENSP00000499709.1:p.Ala44=
ENST00000672071.1:n.2008G=
ENST00000672923.2:n.1913G=
ENST00000268124.9:c.1810G= ENSP00000268124.5:p.Ala604=
ENST00000442287.6:c.1810G= ENSP00000399851.2:p.Ala604=
ENST00000526314.2:c.192G=
ENST00000532584.5:n.12G=
ENST00000631044.2:c.*1193G= ENSP00000486730.1:n.*1193G=
NM_001126131.1:c.1810G= NP_001119603.1:p.Ala604=
NM_002693.2:c.1810G= NP_002684.1:p.Ala604=
NM_001126131.2:c.1810G= NP_001119603.1:p.Ala604=
NM_002693.3:c.1810G= MANE Select NP_002684.1:p.Ala604=