Canonical Allele Identifier: CA2194542067
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318698A= , CM000677.2:g.89318698A= GRCh38
NC_000015.9:g.89861929A= , CM000677.1:g.89861929A= GRCh37
NC_000015.8:g.87662933A= NCBI36
NG_008218.1:g.21098T=
NG_011736.1:g.79736A= , LRG_500:g.79736A=
NG_008218.2:g.21098T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3325T= ENSP00000516154.1:p.Leu1109=
ENST00000268124.11:c.3325T= MANE Select ENSP00000268124.5:p.Leu1109=
ENST00000530292.3:c.2926T= ENSP00000432885.2:p.Leu976=
ENST00000635986.2:c.*395T= ENSP00000490653.2:n.*395T=
ENST00000636774.1:c.*1892T= ENSP00000489799.1:n.*1892T=
ENST00000637238.1:c.2134T= ENSP00000490756.1:n.2134T=
ENST00000637264.1:c.2397T=
ENST00000666746.1:c.2902T=
ENST00000672071.1:n.3523T=
ENST00000672695.1:n.502T=
ENST00000672923.2:n.3325T=
ENST00000268124.9:c.3325T= ENSP00000268124.5:p.Leu1109=
ENST00000442287.6:c.3325T= ENSP00000399851.2:p.Leu1109=
ENST00000530292.2:c.409T= ENSP00000432885.1:p.Leu137=
ENST00000631044.2:c.*2749T= ENSP00000486730.1:n.*2749T=
NM_001126131.1:c.3325T= NP_001119603.1:p.Leu1109=
NM_002693.2:c.3325T= NP_002684.1:p.Leu1109=
NM_001126131.2:c.3325T= NP_001119603.1:p.Leu1109=
NM_002693.3:c.3325T= MANE Select NP_002684.1:p.Leu1109=