Canonical Allele Identifier: CA2194542161
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318717C= , CM000677.2:g.89318717C= GRCh38
NC_000015.9:g.89861948C= , CM000677.1:g.89861948C= GRCh37
NC_000015.8:g.87662952C= NCBI36
NG_008218.1:g.21079G=
NG_011736.1:g.79755C= , LRG_500:g.79755C=
NG_008218.2:g.21079G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3306G= ENSP00000516154.1:p.Gln1102=
ENST00000268124.11:c.3306G= MANE Select ENSP00000268124.5:p.Gln1102=
ENST00000530292.3:c.2907G= ENSP00000432885.2:p.Gln969=
ENST00000635986.2:c.*376G= ENSP00000490653.2:n.*376G=
ENST00000636774.1:c.*1873G= ENSP00000489799.1:n.*1873G=
ENST00000637238.1:c.2115G= ENSP00000490756.1:n.2115G=
ENST00000637264.1:c.2378G=
ENST00000666746.1:c.2883G=
ENST00000672071.1:n.3504G=
ENST00000672695.1:n.483G=
ENST00000672923.2:n.3306G=
ENST00000268124.9:c.3306G= ENSP00000268124.5:p.Gln1102=
ENST00000442287.6:c.3306G= ENSP00000399851.2:p.Gln1102=
ENST00000530292.2:c.390G= ENSP00000432885.1:p.Gln130=
ENST00000631044.2:c.*2730G= ENSP00000486730.1:n.*2730G=
NM_001126131.1:c.3306G= NP_001119603.1:p.Gln1102=
NM_002693.2:c.3306G= NP_002684.1:p.Gln1102=
NM_001126131.2:c.3306G= NP_001119603.1:p.Gln1102=
NM_002693.3:c.3306G= MANE Select NP_002684.1:p.Gln1102=