Canonical Allele Identifier: CA316817
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 206587
dbSNP Id: rs796052902

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329103C>T , CM000677.2:g.89329103C>T GRCh38
NC_000015.9:g.89872334C>T , CM000677.1:g.89872334C>T GRCh37
NC_000015.8:g.87673338C>T NCBI36
NG_008218.1:g.10693G>A
NG_008218.2:g.10693G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.863G>A ENSP00000516154.1:p.Arg288His
ENST00000268124.11:c.863G>A MANE Select ENSP00000268124.5:p.Arg288His
ENST00000530292.3:c.464G>A ENSP00000432885.2:p.Arg155His
ENST00000635986.2:c.863G>A ENSP00000490653.2:p.Arg288His
ENST00000636774.1:c.863G>A ENSP00000489799.1:p.Arg288His
ENST00000666746.1:c.520G>A
ENST00000672071.1:n.1061G>A
ENST00000268124.9:c.863G>A ENSP00000268124.5:p.Arg288His
ENST00000442287.6:c.863G>A ENSP00000399851.2:p.Arg288His
ENST00000631044.2:c.*246G>A ENSP00000486730.1:n.*246G>A
NM_001126131.1:c.863G>A NP_001119603.1:p.Arg288His
NM_002693.2:c.863G>A NP_002684.1:p.Arg288His
NM_001126131.2:c.863G>A NP_001119603.1:p.Arg288His
NM_002693.3:c.863G>A MANE Select NP_002684.1:p.Arg288His