Canonical Allele Identifier: CA2194541858
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318637A= , CM000677.2:g.89318637A= GRCh38
NC_000015.9:g.89861868A= , CM000677.1:g.89861868A= GRCh37
NC_000015.8:g.87662872A= NCBI36
NG_008218.1:g.21159T=
NG_011736.1:g.79675A= , LRG_500:g.79675A=
NG_008218.2:g.21159T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3386T= ENSP00000516154.1:p.Phe1129=
ENST00000268124.11:c.3386T= MANE Select ENSP00000268124.5:p.Phe1129=
ENST00000530292.3:c.2987T= ENSP00000432885.2:p.Phe996=
ENST00000635986.2:c.*456T= ENSP00000490653.2:n.*456T=
ENST00000636774.1:c.*1953T= ENSP00000489799.1:n.*1953T=
ENST00000637238.1:c.2195T= ENSP00000490756.1:n.2195T=
ENST00000637264.1:c.2458T=
ENST00000666746.1:c.2963T=
ENST00000672071.1:n.3584T=
ENST00000672695.1:n.563T=
ENST00000672923.2:n.3386T=
ENST00000268124.9:c.3386T= ENSP00000268124.5:p.Phe1129=
ENST00000442287.6:c.3386T= ENSP00000399851.2:p.Phe1129=
ENST00000530292.2:c.470T= ENSP00000432885.1:p.Phe157=
ENST00000631044.2:c.*2810T= ENSP00000486730.1:n.*2810T=
NM_001126131.1:c.3386T= NP_001119603.1:p.Phe1129=
NM_002693.2:c.3386T= NP_002684.1:p.Phe1129=
NM_001126131.2:c.3386T= NP_001119603.1:p.Phe1129=
NM_002693.3:c.3386T= MANE Select NP_002684.1:p.Phe1129=