Canonical Allele Identifier: CA316815
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 206586
dbSNP Id: rs564582352

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329104G>A , CM000677.2:g.89329104G>A GRCh38
NC_000015.9:g.89872335G>A , CM000677.1:g.89872335G>A GRCh37
NC_000015.8:g.87673339G>A NCBI36
NG_008218.1:g.10692C>T
NG_008218.2:g.10692C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.862C>T ENSP00000516154.1:p.Arg288Cys
ENST00000268124.11:c.862C>T MANE Select ENSP00000268124.5:p.Arg288Cys
ENST00000530292.3:c.463C>T ENSP00000432885.2:p.Arg155Cys
ENST00000635986.2:c.862C>T ENSP00000490653.2:p.Arg288Cys
ENST00000636774.1:c.862C>T ENSP00000489799.1:p.Arg288Cys
ENST00000666746.1:c.519C>T
ENST00000672071.1:n.1060C>T
ENST00000268124.9:c.862C>T ENSP00000268124.5:p.Arg288Cys
ENST00000442287.6:c.862C>T ENSP00000399851.2:p.Arg288Cys
ENST00000631044.2:c.*245C>T ENSP00000486730.1:n.*245C>T
NM_001126131.1:c.862C>T NP_001119603.1:p.Arg288Cys
NM_002693.2:c.862C>T NP_002684.1:p.Arg288Cys
NM_001126131.2:c.862C>T NP_001119603.1:p.Arg288Cys
NM_002693.3:c.862C>T MANE Select NP_002684.1:p.Arg288Cys