Canonical Allele Identifier: CA2194555264
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323431G= , CM000677.2:g.89323431G= GRCh38
NC_000015.9:g.89866662G= , CM000677.1:g.89866662G= GRCh37
NC_000015.8:g.87667666G= NCBI36
NG_008218.1:g.16365C=
NG_008218.2:g.16365C=

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2238C= ENSP00000516154.1:p.Gly746=
ENST00000268124.11:c.2238C= MANE Select ENSP00000268124.5:p.Gly746=
ENST00000530292.3:c.1839C= ENSP00000432885.2:p.Gly613=
ENST00000635986.2:c.2238C= ENSP00000490653.2:p.Gly746=
ENST00000636774.1:c.*805C= ENSP00000489799.1:n.*805C=
ENST00000637238.1:c.935C= ENSP00000490756.1:n.935C=
ENST00000637264.1:c.1310C=
ENST00000666746.1:c.1815C=
ENST00000670281.1:c.558C= ENSP00000499709.1:p.Gly186=
ENST00000672071.1:n.2436C=
ENST00000672923.2:n.2341C=
ENST00000268124.9:c.2238C= ENSP00000268124.5:p.Gly746=
ENST00000442287.6:c.2238C= ENSP00000399851.2:p.Gly746=
ENST00000526314.2:c.539+384C=
ENST00000526398.1:c.387C=
ENST00000528881.2:c.7C=
ENST00000532584.5:n.440C=
ENST00000631044.2:c.*1662C= ENSP00000486730.1:n.*1662C=
NM_001126131.1:c.2238C= NP_001119603.1:p.Gly746=
NM_002693.2:c.2238C= NP_002684.1:p.Gly746=
NM_001126131.2:c.2238C= NP_001119603.1:p.Gly746=
NM_002693.3:c.2238C= MANE Select NP_002684.1:p.Gly746=