Canonical Allele Identifier: CA393761913
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327227T>A , CM000677.2:g.89327227T>A GRCh38
NC_000015.9:g.89870458T>A , CM000677.1:g.89870458T>A GRCh37
NC_000015.8:g.87671462T>A NCBI36
NG_008218.1:g.12569A>T
NG_008218.2:g.12569A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.1373A>T ENSP00000516154.1:p.Glu458Val
ENST00000268124.11:c.1373A>T MANE Select ENSP00000268124.5:p.Glu458Val
ENST00000530292.3:c.974A>T ENSP00000432885.2:p.Glu325Val
ENST00000635986.2:c.1373A>T ENSP00000490653.2:p.Glu458Val
ENST00000636774.1:c.1373A>T ENSP00000489799.1:p.Glu458Val
ENST00000637238.1:c.110A>T ENSP00000490756.1:p.Glu37Val
ENST00000637264.1:c.445A>T
ENST00000666746.1:c.950A>T
ENST00000672071.1:n.1571A>T
ENST00000672923.2:n.1476A>T
ENST00000268124.9:c.1373A>T ENSP00000268124.5:p.Glu458Val
ENST00000442287.6:c.1373A>T ENSP00000399851.2:p.Glu458Val
ENST00000532363.2:n.231A>T
ENST00000631044.2:c.*756A>T ENSP00000486730.1:n.*756A>T
NM_001126131.1:c.1373A>T NP_001119603.1:p.Glu458Val
NM_002693.2:c.1373A>T NP_002684.1:p.Glu458Val
NM_001126131.2:c.1373A>T NP_001119603.1:p.Glu458Val
NM_002693.3:c.1373A>T MANE Select NP_002684.1:p.Glu458Val