Canonical Allele Identifier: CA2194547694
Community Standard Title: NM_002693.3(POLG):c.2890C= (p.Arg964=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320857G= , CM000677.2:g.89320857G= GRCh38
NC_000015.9:g.89864088G= , CM000677.1:g.89864088G= GRCh37
NC_000015.8:g.87665092G= NCBI36
NG_008218.1:g.18939C=
NG_008218.2:g.18939C=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.2890C= MANE Select NP_002684.1:p.Arg964=
ENST00000268124.11:c.2890C= MANE Select ENSP00000268124.5:p.Arg964=
NM_001126131.1:c.2890C= NP_001119603.1:p.Arg964=
NM_001126131.2:c.2890C= NP_001119603.1:p.Arg964=
NM_002693.2:c.2890C= NP_002684.1:p.Arg964=
ENST00000268124.9:c.2890C= ENSP00000268124.5:p.Arg964=
ENST00000442287.6:c.2890C= ENSP00000399851.2:p.Arg964=
ENST00000528881.2:c.487C=
ENST00000530292.3:c.2491C= ENSP00000432885.2:p.Arg831=
ENST00000530715.5:c.198C= ENSP00000431395.1:p.Ser66=
ENST00000631044.2:c.*2314C= ENSP00000486730.1:n.*2314C=
ENST00000635986.2:c.2890C= ENSP00000490653.2:p.Arg964=
ENST00000636774.1:c.*1457C= ENSP00000489799.1:n.*1457C=
ENST00000636937.2:c.2890C= ENSP00000516154.1:p.Arg964=
ENST00000637238.1:c.1699C= ENSP00000490756.1:n.1699C=
ENST00000637264.1:c.1962C=
ENST00000666746.1:c.2467C=
ENST00000670281.1:c.800+1105C= ENSP00000499709.1:n.800+1105C=
ENST00000672071.1:n.3088C=
ENST00000672695.1:n.67C=
ENST00000672923.2:n.2832C=