Canonical Allele Identifier: CA2194555166
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323405T= , CM000677.2:g.89323405T= GRCh38
NC_000015.9:g.89866636T= , CM000677.1:g.89866636T= GRCh37
NC_000015.8:g.87667640T= NCBI36
NG_008218.1:g.16391A=
NG_008218.2:g.16391A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2264A= ENSP00000516154.1:p.Lys755=
ENST00000268124.11:c.2264A= MANE Select ENSP00000268124.5:p.Lys755=
ENST00000530292.3:c.1865A= ENSP00000432885.2:p.Lys622=
ENST00000635986.2:c.2264A= ENSP00000490653.2:p.Lys755=
ENST00000636774.1:c.*831A= ENSP00000489799.1:n.*831A=
ENST00000637238.1:c.961A= ENSP00000490756.1:n.961A=
ENST00000637264.1:c.1336A=
ENST00000666746.1:c.1841A=
ENST00000670281.1:c.584A= ENSP00000499709.1:p.Lys195=
ENST00000672071.1:n.2462A=
ENST00000672923.2:n.2367A=
ENST00000268124.9:c.2264A= ENSP00000268124.5:p.Lys755=
ENST00000442287.6:c.2264A= ENSP00000399851.2:p.Lys755=
ENST00000526314.2:c.539+410A=
ENST00000526398.1:c.413A=
ENST00000528881.2:c.33A=
ENST00000530715.5:c.23A= ENSP00000431395.1:p.Lys8=
ENST00000532584.5:n.466A=
ENST00000631044.2:c.*1688A= ENSP00000486730.1:n.*1688A=
NM_001126131.1:c.2264A= NP_001119603.1:p.Lys755=
NM_002693.2:c.2264A= NP_002684.1:p.Lys755=
NM_001126131.2:c.2264A= NP_001119603.1:p.Lys755=
NM_002693.3:c.2264A= MANE Select NP_002684.1:p.Lys755=