Canonical Allele Identifier: CA2194541902
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318650T= , CM000677.2:g.89318650T= GRCh38
NC_000015.9:g.89861881T= , CM000677.1:g.89861881T= GRCh37
NC_000015.8:g.87662885T= NCBI36
NG_008218.1:g.21146A=
NG_011736.1:g.79688T= , LRG_500:g.79688T=
NG_008218.2:g.21146A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3373A= ENSP00000516154.1:p.Ile1125=
ENST00000268124.11:c.3373A= MANE Select ENSP00000268124.5:p.Ile1125=
ENST00000530292.3:c.2974A= ENSP00000432885.2:p.Ile992=
ENST00000635986.2:c.*443A= ENSP00000490653.2:n.*443A=
ENST00000636774.1:c.*1940A= ENSP00000489799.1:n.*1940A=
ENST00000637238.1:c.2182A= ENSP00000490756.1:n.2182A=
ENST00000637264.1:c.2445A=
ENST00000666746.1:c.2950A=
ENST00000672071.1:n.3571A=
ENST00000672695.1:n.550A=
ENST00000672923.2:n.3373A=
ENST00000268124.9:c.3373A= ENSP00000268124.5:p.Ile1125=
ENST00000442287.6:c.3373A= ENSP00000399851.2:p.Ile1125=
ENST00000530292.2:c.457A= ENSP00000432885.1:p.Ile153=
ENST00000631044.2:c.*2797A= ENSP00000486730.1:n.*2797A=
NM_001126131.1:c.3373A= NP_001119603.1:p.Ile1125=
NM_002693.2:c.3373A= NP_002684.1:p.Ile1125=
NM_001126131.2:c.3373A= NP_001119603.1:p.Ile1125=
NM_002693.3:c.3373A= MANE Select NP_002684.1:p.Ile1125=