Canonical Allele Identifier: CA2194542169
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318720T= , CM000677.2:g.89318720T= GRCh38
NC_000015.9:g.89861951T= , CM000677.1:g.89861951T= GRCh37
NC_000015.8:g.87662955T= NCBI36
NG_008218.1:g.21076A=
NG_011736.1:g.79758T= , LRG_500:g.79758T=
NG_008218.2:g.21076A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3303A= ENSP00000516154.1:p.Val1101=
ENST00000268124.11:c.3303A= MANE Select ENSP00000268124.5:p.Val1101=
ENST00000530292.3:c.2904A= ENSP00000432885.2:p.Val968=
ENST00000635986.2:c.*373A= ENSP00000490653.2:n.*373A=
ENST00000636774.1:c.*1870A= ENSP00000489799.1:n.*1870A=
ENST00000637238.1:c.2112A= ENSP00000490756.1:n.2112A=
ENST00000637264.1:c.2375A=
ENST00000666746.1:c.2880A=
ENST00000672071.1:n.3501A=
ENST00000672695.1:n.480A=
ENST00000672923.2:n.3303A=
ENST00000268124.9:c.3303A= ENSP00000268124.5:p.Val1101=
ENST00000442287.6:c.3303A= ENSP00000399851.2:p.Val1101=
ENST00000530292.2:c.387A= ENSP00000432885.1:p.Val129=
ENST00000631044.2:c.*2727A= ENSP00000486730.1:n.*2727A=
NM_001126131.1:c.3303A= NP_001119603.1:p.Val1101=
NM_002693.2:c.3303A= NP_002684.1:p.Val1101=
NM_001126131.2:c.3303A= NP_001119603.1:p.Val1101=
NM_002693.3:c.3303A= MANE Select NP_002684.1:p.Val1101=