Canonical Allele Identifier: CA2194542213
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318734C= , CM000677.2:g.89318734C= GRCh38
NC_000015.9:g.89861965C= , CM000677.1:g.89861965C= GRCh37
NC_000015.8:g.87662969C= NCBI36
NG_008218.1:g.21062G=
NG_011736.1:g.79772C= , LRG_500:g.79772C=
NG_008218.2:g.21062G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3289G= ENSP00000516154.1:p.Val1097=
ENST00000268124.11:c.3289G= MANE Select ENSP00000268124.5:p.Val1097=
ENST00000530292.3:c.2890G= ENSP00000432885.2:p.Val964=
ENST00000635986.2:c.*359G= ENSP00000490653.2:n.*359G=
ENST00000636774.1:c.*1856G= ENSP00000489799.1:n.*1856G=
ENST00000637238.1:c.2098G= ENSP00000490756.1:n.2098G=
ENST00000637264.1:c.2361G=
ENST00000666746.1:c.2866G=
ENST00000672071.1:n.3487G=
ENST00000672695.1:n.466G=
ENST00000672923.2:n.3289G=
ENST00000268124.9:c.3289G= ENSP00000268124.5:p.Val1097=
ENST00000442287.6:c.3289G= ENSP00000399851.2:p.Val1097=
ENST00000530292.2:c.373G= ENSP00000432885.1:p.Val125=
ENST00000631044.2:c.*2713G= ENSP00000486730.1:n.*2713G=
NM_001126131.1:c.3289G= NP_001119603.1:p.Val1097=
NM_002693.2:c.3289G= NP_002684.1:p.Val1097=
NM_001126131.2:c.3289G= NP_001119603.1:p.Val1097=
NM_002693.3:c.3289G= MANE Select NP_002684.1:p.Val1097=