Canonical Allele Identifier: CA393759216
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325541A>T , CM000677.2:g.89325541A>T GRCh38
NC_000015.9:g.89868772A>T , CM000677.1:g.89868772A>T GRCh37
NC_000015.8:g.87669776A>T NCBI36
NG_008218.1:g.14255T>A
NG_008218.2:g.14255T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.1858T>A ENSP00000516154.1:p.Trp620Arg
ENST00000268124.11:c.1858T>A MANE Select ENSP00000268124.5:p.Trp620Arg
ENST00000530292.3:c.1459T>A ENSP00000432885.2:p.Trp487Arg
ENST00000635986.2:c.1858T>A ENSP00000490653.2:p.Trp620Arg
ENST00000636774.1:c.*425T>A ENSP00000489799.1:n.*425T>A
ENST00000637238.1:c.595T>A ENSP00000490756.1:p.Trp199Arg
ENST00000637264.1:c.930T>A
ENST00000666746.1:c.1435T>A
ENST00000670281.1:c.178T>A ENSP00000499709.1:p.Trp60Arg
ENST00000672071.1:n.2056T>A
ENST00000672923.2:n.1961T>A
ENST00000268124.9:c.1858T>A ENSP00000268124.5:p.Trp620Arg
ENST00000442287.6:c.1858T>A ENSP00000399851.2:p.Trp620Arg
ENST00000526314.2:c.240T>A
ENST00000526398.1:c.47T>A
ENST00000532584.5:n.60T>A
ENST00000631044.2:c.*1241T>A ENSP00000486730.1:n.*1241T>A
NM_001126131.1:c.1858T>A NP_001119603.1:p.Trp620Arg
NM_002693.2:c.1858T>A NP_002684.1:p.Trp620Arg
NM_001126131.2:c.1858T>A NP_001119603.1:p.Trp620Arg
NM_002693.3:c.1858T>A MANE Select NP_002684.1:p.Trp620Arg