Canonical Allele Identifier: CA2194547278
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320697T>A , CM000677.2:g.89320697T>A GRCh38
NC_000015.9:g.89863928T>A , CM000677.1:g.89863928T>A GRCh37
NC_000015.8:g.87664932T>A NCBI36
NG_008218.1:g.19099A>T
NG_008218.2:g.19099A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2981+69A>T ENSP00000516154.1:n.2981+69A>T
ENST00000268124.11:c.2981+69A>T MANE Select ENSP00000268124.5:n.2981+69A>T
ENST00000530292.3:c.2582+69A>T ENSP00000432885.2:n.2582+69A>T
ENST00000635986.2:c.2981+69A>T ENSP00000490653.2:n.2981+69A>T
ENST00000636774.1:c.*1548+69A>T ENSP00000489799.1:n.*1548+69A>T
ENST00000636812.1:c.36+69A>T
ENST00000637238.1:c.1790+69A>T ENSP00000490756.1:n.1790+69A>T
ENST00000637264.1:c.2053+69A>T
ENST00000666746.1:c.2558+69A>T
ENST00000670281.1:c.800+1265A>T ENSP00000499709.1:n.800+1265A>T
ENST00000672071.1:n.3179+69A>T
ENST00000672695.1:n.158+69A>T
ENST00000672923.2:n.2923+69A>T
ENST00000268124.9:c.2981+69A>T ENSP00000268124.5:n.2981+69A>T
ENST00000442287.6:c.2981+69A>T ENSP00000399851.2:n.2981+69A>T
ENST00000530292.2:c.65+69A>T ENSP00000432885.1:n.65+69A>T
ENST00000530715.5:c.289+69A>T ENSP00000431395.1:n.289+69A>T
ENST00000631044.2:c.*2405+69A>T ENSP00000486730.1:n.*2405+69A>T
NM_001126131.1:c.2981+69A>T NP_001119603.1:n.2981+69A>T
NM_002693.2:c.2981+69A>T NP_002684.1:n.2981+69A>T
NM_001126131.2:c.2981+69A>T NP_001119603.1:n.2981+69A>T
NM_002693.3:c.2981+69A>T MANE Select NP_002684.1:n.2981+69A>T