Canonical Allele Identifier: CA2194539150
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317445C= , CM000677.2:g.89317445C= GRCh38
NC_000015.9:g.89860676C= , CM000677.1:g.89860676C= GRCh37
NC_000015.8:g.87661680C= NCBI36
NG_008218.1:g.22351G=
NG_011736.1:g.78483C= , LRG_500:g.78483C=
NG_008218.2:g.22351G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3574G= ENSP00000516154.1:p.Glu1192=
ENST00000268124.11:c.3574G= MANE Select ENSP00000268124.5:p.Glu1192=
ENST00000530292.3:c.3274G= ENSP00000432885.2:n.3274G=
ENST00000635986.2:c.*644G= ENSP00000490653.2:n.*644G=
ENST00000636774.1:c.*2178G= ENSP00000489799.1:n.*2178G=
ENST00000637042.1:n.98G=
ENST00000637238.1:c.2482G= ENSP00000490756.1:n.2482G=
ENST00000637264.1:c.2586G=
ENST00000666746.1:c.3151G=
ENST00000672071.1:n.4776G=
ENST00000672695.1:n.1353G=
ENST00000672923.2:n.3574G=
ENST00000268124.9:c.3574G= ENSP00000268124.5:p.Glu1192=
ENST00000442287.6:c.3574G= ENSP00000399851.2:p.Glu1192=
ENST00000526671.1:n.384G=
ENST00000530292.2:c.757G= ENSP00000432885.1:n.757G=
ENST00000631044.2:c.*2998G= ENSP00000486730.1:n.*2998G=
NM_001126131.1:c.3574G= NP_001119603.1:p.Glu1192=
NM_002693.2:c.3574G= NP_002684.1:p.Glu1192=
NM_001126131.2:c.3574G= NP_001119603.1:p.Glu1192=
NM_002693.3:c.3574G= MANE Select NP_002684.1:p.Glu1192=