Canonical Allele Identifier: CA2194541910
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318655A= , CM000677.2:g.89318655A= GRCh38
NC_000015.9:g.89861886A= , CM000677.1:g.89861886A= GRCh37
NC_000015.8:g.87662890A= NCBI36
NG_008218.1:g.21141T=
NG_011736.1:g.79693A= , LRG_500:g.79693A=
NG_008218.2:g.21141T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3368T= ENSP00000516154.1:p.Phe1123=
ENST00000268124.11:c.3368T= MANE Select ENSP00000268124.5:p.Phe1123=
ENST00000530292.3:c.2969T= ENSP00000432885.2:p.Phe990=
ENST00000635986.2:c.*438T= ENSP00000490653.2:n.*438T=
ENST00000636774.1:c.*1935T= ENSP00000489799.1:n.*1935T=
ENST00000637238.1:c.2177T= ENSP00000490756.1:n.2177T=
ENST00000637264.1:c.2440T=
ENST00000666746.1:c.2945T=
ENST00000672071.1:n.3566T=
ENST00000672695.1:n.545T=
ENST00000672923.2:n.3368T=
ENST00000268124.9:c.3368T= ENSP00000268124.5:p.Phe1123=
ENST00000442287.6:c.3368T= ENSP00000399851.2:p.Phe1123=
ENST00000530292.2:c.452T= ENSP00000432885.1:p.Phe151=
ENST00000631044.2:c.*2792T= ENSP00000486730.1:n.*2792T=
NM_001126131.1:c.3368T= NP_001119603.1:p.Phe1123=
NM_002693.2:c.3368T= NP_002684.1:p.Phe1123=
NM_001126131.2:c.3368T= NP_001119603.1:p.Phe1123=
NM_002693.3:c.3368T= MANE Select NP_002684.1:p.Phe1123=