Canonical Allele Identifier: CA2194550409
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325615T= , CM000677.2:g.89325615T= GRCh38
NC_000015.9:g.89868846T= , CM000677.1:g.89868846T= GRCh37
NC_000015.8:g.87669850T= NCBI36
NG_008218.1:g.14181A=
NG_008218.2:g.14181A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1784A= ENSP00000516154.1:p.Gln595=
ENST00000268124.11:c.1784A= MANE Select ENSP00000268124.5:p.Gln595=
ENST00000530292.3:c.1385A= ENSP00000432885.2:p.Gln462=
ENST00000635986.2:c.1784A= ENSP00000490653.2:p.Gln595=
ENST00000636774.1:c.*351A= ENSP00000489799.1:n.*351A=
ENST00000637238.1:c.521A= ENSP00000490756.1:p.Gln174=
ENST00000637264.1:c.856A=
ENST00000666746.1:c.1361A=
ENST00000670281.1:c.104A= ENSP00000499709.1:p.Gln35=
ENST00000672071.1:n.1982A=
ENST00000672923.2:n.1887A=
ENST00000268124.9:c.1784A= ENSP00000268124.5:p.Gln595=
ENST00000442287.6:c.1784A= ENSP00000399851.2:p.Gln595=
ENST00000526314.2:c.166A=
ENST00000631044.2:c.*1167A= ENSP00000486730.1:n.*1167A=
NM_001126131.1:c.1784A= NP_001119603.1:p.Gln595=
NM_002693.2:c.1784A= NP_002684.1:p.Gln595=
NM_001126131.2:c.1784A= NP_001119603.1:p.Gln595=
NM_002693.3:c.1784A= MANE Select NP_002684.1:p.Gln595=