Canonical Allele Identifier: CA2194541485
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318542T= , CM000677.2:g.89318542T= GRCh38
NC_000015.9:g.89861773T= , CM000677.1:g.89861773T= GRCh37
NC_000015.8:g.87662777T= NCBI36
NG_008218.1:g.21254A=
NG_011736.1:g.79580T= , LRG_500:g.79580T=
NG_008218.2:g.21254A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3481A= ENSP00000516154.1:p.Arg1161=
ENST00000268124.11:c.3481A= MANE Select ENSP00000268124.5:p.Arg1161=
ENST00000530292.3:c.3082A= ENSP00000432885.2:p.Ser1028=
ENST00000635986.2:c.*551A= ENSP00000490653.2:n.*551A=
ENST00000636774.1:c.*2048A= ENSP00000489799.1:n.*2048A=
ENST00000637238.1:c.2290A= ENSP00000490756.1:n.2290A=
ENST00000637264.1:c.2553A=
ENST00000666746.1:c.3058A=
ENST00000672071.1:n.3679A=
ENST00000672695.1:n.658A=
ENST00000672923.2:n.3481A=
ENST00000268124.9:c.3481A= ENSP00000268124.5:p.Arg1161=
ENST00000442287.6:c.3481A= ENSP00000399851.2:p.Arg1161=
ENST00000530292.2:c.565A= ENSP00000432885.1:p.Ser189=
ENST00000631044.2:c.*2905A= ENSP00000486730.1:n.*2905A=
NM_001126131.1:c.3481A= NP_001119603.1:p.Arg1161=
NM_002693.2:c.3481A= NP_002684.1:p.Arg1161=
NM_001126131.2:c.3481A= NP_001119603.1:p.Arg1161=
NM_002693.3:c.3481A= MANE Select NP_002684.1:p.Arg1161=