Canonical Allele Identifier: CA2194541955
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318664A= , CM000677.2:g.89318664A= GRCh38
NC_000015.9:g.89861895A= , CM000677.1:g.89861895A= GRCh37
NC_000015.8:g.87662899A= NCBI36
NG_008218.1:g.21132T=
NG_011736.1:g.79702A= , LRG_500:g.79702A=
NG_008218.2:g.21132T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3359T= ENSP00000516154.1:p.Phe1120=
ENST00000268124.11:c.3359T= MANE Select ENSP00000268124.5:p.Phe1120=
ENST00000530292.3:c.2960T= ENSP00000432885.2:p.Phe987=
ENST00000635986.2:c.*429T= ENSP00000490653.2:n.*429T=
ENST00000636774.1:c.*1926T= ENSP00000489799.1:n.*1926T=
ENST00000637238.1:c.2168T= ENSP00000490756.1:n.2168T=
ENST00000637264.1:c.2431T=
ENST00000666746.1:c.2936T=
ENST00000672071.1:n.3557T=
ENST00000672695.1:n.536T=
ENST00000672923.2:n.3359T=
ENST00000268124.9:c.3359T= ENSP00000268124.5:p.Phe1120=
ENST00000442287.6:c.3359T= ENSP00000399851.2:p.Phe1120=
ENST00000530292.2:c.443T= ENSP00000432885.1:p.Phe148=
ENST00000631044.2:c.*2783T= ENSP00000486730.1:n.*2783T=
NM_001126131.1:c.3359T= NP_001119603.1:p.Phe1120=
NM_002693.2:c.3359T= NP_002684.1:p.Phe1120=
NM_001126131.2:c.3359T= NP_001119603.1:p.Phe1120=
NM_002693.3:c.3359T= MANE Select NP_002684.1:p.Phe1120=