Canonical Allele Identifier: CA2194541922
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318657C= , CM000677.2:g.89318657C= GRCh38
NC_000015.9:g.89861888C= , CM000677.1:g.89861888C= GRCh37
NC_000015.8:g.87662892C= NCBI36
NG_008218.1:g.21139G=
NG_011736.1:g.79695C= , LRG_500:g.79695C=
NG_008218.2:g.21139G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3366G= ENSP00000516154.1:p.Glu1122=
ENST00000268124.11:c.3366G= MANE Select ENSP00000268124.5:p.Glu1122=
ENST00000530292.3:c.2967G= ENSP00000432885.2:p.Glu989=
ENST00000635986.2:c.*436G= ENSP00000490653.2:n.*436G=
ENST00000636774.1:c.*1933G= ENSP00000489799.1:n.*1933G=
ENST00000637238.1:c.2175G= ENSP00000490756.1:n.2175G=
ENST00000637264.1:c.2438G=
ENST00000666746.1:c.2943G=
ENST00000672071.1:n.3564G=
ENST00000672695.1:n.543G=
ENST00000672923.2:n.3366G=
ENST00000268124.9:c.3366G= ENSP00000268124.5:p.Glu1122=
ENST00000442287.6:c.3366G= ENSP00000399851.2:p.Glu1122=
ENST00000530292.2:c.450G= ENSP00000432885.1:p.Glu150=
ENST00000631044.2:c.*2790G= ENSP00000486730.1:n.*2790G=
NM_001126131.1:c.3366G= NP_001119603.1:p.Glu1122=
NM_002693.2:c.3366G= NP_002684.1:p.Glu1122=
NM_001126131.2:c.3366G= NP_001119603.1:p.Glu1122=
NM_002693.3:c.3366G= MANE Select NP_002684.1:p.Glu1122=