Canonical Allele Identifier: CA393761079
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327030C>A , CM000677.2:g.89327030C>A GRCh38
NC_000015.9:g.89870261C>A , CM000677.1:g.89870261C>A GRCh37
NC_000015.8:g.87671265C>A NCBI36
NG_008218.1:g.12766G>T
NG_008218.2:g.12766G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1467G>T ENSP00000516154.1:p.Glu489Asp
ENST00000268124.11:c.1467G>T MANE Select ENSP00000268124.5:p.Glu489Asp
ENST00000530292.3:c.1068G>T ENSP00000432885.2:p.Glu356Asp
ENST00000635986.2:c.1467G>T ENSP00000490653.2:p.Glu489Asp
ENST00000636774.1:c.*34G>T ENSP00000489799.1:n.*34G>T
ENST00000637238.1:c.204G>T ENSP00000490756.1:p.Glu68Asp
ENST00000637264.1:c.539G>T
ENST00000666746.1:c.1044G>T
ENST00000672071.1:n.1665G>T
ENST00000672923.2:n.1570G>T
ENST00000268124.9:c.1467G>T ENSP00000268124.5:p.Glu489Asp
ENST00000442287.6:c.1467G>T ENSP00000399851.2:p.Glu489Asp
ENST00000532363.2:n.428G>T
ENST00000631044.2:c.*850G>T ENSP00000486730.1:n.*850G>T
NM_001126131.1:c.1467G>T NP_001119603.1:p.Glu489Asp
NM_002693.2:c.1467G>T NP_002684.1:p.Glu489Asp
NM_001126131.2:c.1467G>T NP_001119603.1:p.Glu489Asp
NM_002693.3:c.1467G>T MANE Select NP_002684.1:p.Glu489Asp