Canonical Allele Identifier: CA2194556535
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89326914T= , CM000677.2:g.89326914T= GRCh38
NC_000015.9:g.89870145T= , CM000677.1:g.89870145T= GRCh37
NC_000015.8:g.87671149T= NCBI36
NG_008218.1:g.12882A=
NG_008218.2:g.12882A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1583A= ENSP00000516154.1:p.Glu528=
ENST00000268124.11:c.1583A= MANE Select ENSP00000268124.5:p.Glu528=
ENST00000530292.3:c.1184A= ENSP00000432885.2:p.Glu395=
ENST00000635986.2:c.1583A= ENSP00000490653.2:p.Glu528=
ENST00000636774.1:c.*150A= ENSP00000489799.1:n.*150A=
ENST00000637238.1:c.320A= ENSP00000490756.1:p.Glu107=
ENST00000637264.1:c.655A=
ENST00000666746.1:c.1160A=
ENST00000672071.1:n.1781A=
ENST00000672923.2:n.1686A=
ENST00000268124.9:c.1583A= ENSP00000268124.5:p.Glu528=
ENST00000442287.6:c.1583A= ENSP00000399851.2:p.Glu528=
ENST00000631044.2:c.*966A= ENSP00000486730.1:n.*966A=
NM_001126131.1:c.1583A= NP_001119603.1:p.Glu528=
NM_002693.2:c.1583A= NP_002684.1:p.Glu528=
NM_001126131.2:c.1583A= NP_001119603.1:p.Glu528=
NM_002693.3:c.1583A= MANE Select NP_002684.1:p.Glu528=