Canonical Allele Identifier: CA2194562856
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329064A= , CM000677.2:g.89329064A= GRCh38
NC_000015.9:g.89872295A= , CM000677.1:g.89872295A= GRCh37
NC_000015.8:g.87673299A= NCBI36
NG_008218.1:g.10732T=
NG_008218.2:g.10732T=

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.902T= ENSP00000516154.1:p.Ile301=
ENST00000268124.11:c.902T= MANE Select ENSP00000268124.5:p.Ile301=
ENST00000530292.3:c.503T= ENSP00000432885.2:p.Ile168=
ENST00000635986.2:c.902T= ENSP00000490653.2:p.Ile301=
ENST00000636774.1:c.902T= ENSP00000489799.1:p.Ile301=
ENST00000666746.1:c.559T=
ENST00000672071.1:n.1100T=
ENST00000268124.9:c.902T= ENSP00000268124.5:p.Ile301=
ENST00000442287.6:c.902T= ENSP00000399851.2:p.Ile301=
ENST00000631044.2:c.*285T= ENSP00000486730.1:n.*285T=
NM_001126131.1:c.902T= NP_001119603.1:p.Ile301=
NM_002693.2:c.902T= NP_002684.1:p.Ile301=
NM_001126131.2:c.902T= NP_001119603.1:p.Ile301=
NM_002693.3:c.902T= MANE Select NP_002684.1:p.Ile301=