Canonical Allele Identifier: CA2194541905
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318651G= , CM000677.2:g.89318651G= GRCh38
NC_000015.9:g.89861882G= , CM000677.1:g.89861882G= GRCh37
NC_000015.8:g.87662886G= NCBI36
NG_008218.1:g.21145C=
NG_011736.1:g.79689G= , LRG_500:g.79689G=
NG_008218.2:g.21145C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3372C= ENSP00000516154.1:p.Ala1124=
ENST00000268124.11:c.3372C= MANE Select ENSP00000268124.5:p.Ala1124=
ENST00000530292.3:c.2973C= ENSP00000432885.2:p.Ala991=
ENST00000635986.2:c.*442C= ENSP00000490653.2:n.*442C=
ENST00000636774.1:c.*1939C= ENSP00000489799.1:n.*1939C=
ENST00000637238.1:c.2181C= ENSP00000490756.1:n.2181C=
ENST00000637264.1:c.2444C=
ENST00000666746.1:c.2949C=
ENST00000672071.1:n.3570C=
ENST00000672695.1:n.549C=
ENST00000672923.2:n.3372C=
ENST00000268124.9:c.3372C= ENSP00000268124.5:p.Ala1124=
ENST00000442287.6:c.3372C= ENSP00000399851.2:p.Ala1124=
ENST00000530292.2:c.456C= ENSP00000432885.1:p.Ala152=
ENST00000631044.2:c.*2796C= ENSP00000486730.1:n.*2796C=
NM_001126131.1:c.3372C= NP_001119603.1:p.Ala1124=
NM_002693.2:c.3372C= NP_002684.1:p.Ala1124=
NM_001126131.2:c.3372C= NP_001119603.1:p.Ala1124=
NM_002693.3:c.3372C= MANE Select NP_002684.1:p.Ala1124=