Canonical Allele Identifier: CA2194555461
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323468T= , CM000677.2:g.89323468T= GRCh38
NC_000015.9:g.89866699T= , CM000677.1:g.89866699T= GRCh37
NC_000015.8:g.87667703T= NCBI36
NG_008218.1:g.16328A=
NG_008218.2:g.16328A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2201A= ENSP00000516154.1:p.His734=
ENST00000268124.11:c.2201A= MANE Select ENSP00000268124.5:p.His734=
ENST00000530292.3:c.1802A= ENSP00000432885.2:p.His601=
ENST00000635986.2:c.2201A= ENSP00000490653.2:p.His734=
ENST00000636774.1:c.*768A= ENSP00000489799.1:n.*768A=
ENST00000637238.1:c.898A= ENSP00000490756.1:n.898A=
ENST00000637264.1:c.1273A=
ENST00000666746.1:c.1778A=
ENST00000670281.1:c.521A= ENSP00000499709.1:p.His174=
ENST00000672071.1:n.2399A=
ENST00000672923.2:n.2304A=
ENST00000268124.9:c.2201A= ENSP00000268124.5:p.His734=
ENST00000442287.6:c.2201A= ENSP00000399851.2:p.His734=
ENST00000526314.2:c.539+347A=
ENST00000526398.1:c.350A=
ENST00000532584.5:n.403A=
ENST00000631044.2:c.*1625A= ENSP00000486730.1:n.*1625A=
NM_001126131.1:c.2201A= NP_001119603.1:p.His734=
NM_002693.2:c.2201A= NP_002684.1:p.His734=
NM_001126131.2:c.2201A= NP_001119603.1:p.His734=
NM_002693.3:c.2201A= MANE Select NP_002684.1:p.His734=