Canonical Allele Identifier: CA2194565651
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89330242G= , CM000677.2:g.89330242G= GRCh38
NC_000015.9:g.89873473G= , CM000677.1:g.89873473G= GRCh37
NC_000015.8:g.87674477G= NCBI36
NG_008218.1:g.9554C=
NG_008218.2:g.9554C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.694C= (POLG) ENSP00000516154.1:p.Arg232=
ENST00000706918.1:c.749C= (POLGARF) ENSP00000516626.1:p.Ala250=
ENST00000268124.11:c.694C= (POLG) MANE Select ENSP00000268124.5:p.Arg232=
ENST00000530292.3:c.295C= (POLG) ENSP00000432885.2:p.Arg99=
ENST00000635986.2:c.694C= (POLG) ENSP00000490653.2:p.Arg232=
ENST00000636774.1:c.694C= (POLG) ENSP00000489799.1:p.Arg232=
ENST00000637307.1:c.69C= (POLG)
ENST00000650303.2:c.749C= (POLG) ENSP00000497242.2:p.Ala250=
ENST00000666746.1:c.351C= (POLG)
ENST00000672071.1:n.892C= (POLG)
ENST00000268124.9:c.694C= (POLG) ENSP00000268124.5:p.Arg232=
ENST00000442287.6:c.694C= (POLG) ENSP00000399851.2:p.Arg232=
ENST00000631044.2:c.*77C= (POLG) ENSP00000486730.1:n.*77C=
NM_001126131.1:c.694C= (POLG) NP_001119603.1:p.Arg232=
NM_002693.2:c.694C= (POLG) NP_002684.1:p.Arg232=
NM_001126131.2:c.694C= (POLG) NP_001119603.1:p.Arg232=
NM_002693.3:c.694C= (POLG) MANE Select NP_002684.1:p.Arg232=