Canonical Allele Identifier: CA316740
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 206548
dbSNP Id: rs181860632

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89319065G>A , CM000677.2:g.89319065G>A GRCh38
NC_000015.9:g.89862296G>A , CM000677.1:g.89862296G>A GRCh37
NC_000015.8:g.87663300G>A NCBI36
NG_008218.1:g.20731C>T
NG_011736.1:g.80103G>A , LRG_500:g.80103G>A
NG_008218.2:g.20731C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000268124.11:c.3139C>T MANE Select ENSP00000268124.5:p.Arg1047Trp
ENST00000530292.3:n.2740C>T ENSP00000432885.2:p.Arg914Trp
ENST00000635986.2:c.*209C>T ENSP00000490653.2:p.=
ENST00000636530.1:n.99C>T
ENST00000636774.1:c.*1706C>T ENSP00000489799.1:p.=
ENST00000637238.1:n.1948C>T ENSP00000490756.1:p.=
ENST00000637264.1:n.2211C>T
ENST00000666746.1:n.2716C>T
ENST00000672071.1:n.3337C>T
ENST00000672695.1:n.316C>T
ENST00000672923.2:n.3139C>T
ENST00000268124.9:c.3139C>T ENSP00000268124.5:p.Arg1047Trp
ENST00000442287.6:c.3139C>T ENSP00000399851.2:p.Arg1047Trp
ENST00000530292.2:n.223C>T ENSP00000432885.1:p.Arg75Trp
ENST00000631044.2:c.*2563C>T ENSP00000486730.1:p.=
NM_001126131.1:c.3139C>T NP_001119603.1:p.Arg1047Trp
NM_002693.2:c.3139C>T NP_002684.1:p.Arg1047Trp
NM_001126131.2:c.3139C>T NP_001119603.1:p.Arg1047Trp
NM_002693.3:c.3139C>T MANE Select NP_002684.1:p.Arg1047Trp