Canonical Allele Identifier: CA2194547796
Community Standard Title: NM_002693.3(POLG):c.2869G= (p.Ala957=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320878C= , CM000677.2:g.89320878C= GRCh38
NC_000015.9:g.89864109C= , CM000677.1:g.89864109C= GRCh37
NC_000015.8:g.87665113C= NCBI36
NG_008218.1:g.18918G=
NG_008218.2:g.18918G=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.2869G= MANE Select NP_002684.1:p.Ala957=
ENST00000268124.11:c.2869G= MANE Select ENSP00000268124.5:p.Ala957=
NM_001126131.1:c.2869G= NP_001119603.1:p.Ala957=
NM_001126131.2:c.2869G= NP_001119603.1:p.Ala957=
NM_002693.2:c.2869G= NP_002684.1:p.Ala957=
ENST00000268124.9:c.2869G= ENSP00000268124.5:p.Ala957=
ENST00000442287.6:c.2869G= ENSP00000399851.2:p.Ala957=
ENST00000528881.2:c.466G=
ENST00000530292.3:c.2470G= ENSP00000432885.2:p.Ala824=
ENST00000530715.5:c.186-9G= ENSP00000431395.1:n.186-9G=
ENST00000631044.2:c.*2293G= ENSP00000486730.1:n.*2293G=
ENST00000635986.2:c.2869G= ENSP00000490653.2:p.Ala957=
ENST00000636774.1:c.*1436G= ENSP00000489799.1:n.*1436G=
ENST00000636937.2:c.2869G= ENSP00000516154.1:p.Ala957=
ENST00000637238.1:c.1678G= ENSP00000490756.1:n.1678G=
ENST00000637264.1:c.1941G=
ENST00000666746.1:c.2446G=
ENST00000670281.1:c.800+1084G= ENSP00000499709.1:n.800+1084G=
ENST00000672071.1:n.3067G=
ENST00000672695.1:n.46G=
ENST00000672923.2:n.2811G=