Canonical Allele Identifier: CA2194542107
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318707C= , CM000677.2:g.89318707C= GRCh38
NC_000015.9:g.89861938C= , CM000677.1:g.89861938C= GRCh37
NC_000015.8:g.87662942C= NCBI36
NG_008218.1:g.21089G=
NG_011736.1:g.79745C= , LRG_500:g.79745C=
NG_008218.2:g.21089G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3316G= ENSP00000516154.1:p.Val1106=
ENST00000268124.11:c.3316G= MANE Select ENSP00000268124.5:p.Val1106=
ENST00000530292.3:c.2917G= ENSP00000432885.2:p.Val973=
ENST00000635986.2:c.*386G= ENSP00000490653.2:n.*386G=
ENST00000636774.1:c.*1883G= ENSP00000489799.1:n.*1883G=
ENST00000637238.1:c.2125G= ENSP00000490756.1:n.2125G=
ENST00000637264.1:c.2388G=
ENST00000666746.1:c.2893G=
ENST00000672071.1:n.3514G=
ENST00000672695.1:n.493G=
ENST00000672923.2:n.3316G=
ENST00000268124.9:c.3316G= ENSP00000268124.5:p.Val1106=
ENST00000442287.6:c.3316G= ENSP00000399851.2:p.Val1106=
ENST00000530292.2:c.400G= ENSP00000432885.1:p.Val134=
ENST00000631044.2:c.*2740G= ENSP00000486730.1:n.*2740G=
NM_001126131.1:c.3316G= NP_001119603.1:p.Val1106=
NM_002693.2:c.3316G= NP_002684.1:p.Val1106=
NM_001126131.2:c.3316G= NP_001119603.1:p.Val1106=
NM_002693.3:c.3316G= MANE Select NP_002684.1:p.Val1106=