Canonical Allele Identifier: CA2194539587
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317533G= , CM000677.2:g.89317533G= GRCh38
NC_000015.9:g.89860764G= , CM000677.1:g.89860764G= GRCh37
NC_000015.8:g.87661768G= NCBI36
NG_008218.1:g.22263C=
NG_011736.1:g.78571G= , LRG_500:g.78571G=
NG_008218.2:g.22263C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3486C= ENSP00000516154.1:p.Cys1162=
ENST00000268124.11:c.3486C= MANE Select ENSP00000268124.5:p.Cys1162=
ENST00000530292.3:c.3186C= ENSP00000432885.2:n.3186C=
ENST00000635986.2:c.*556C= ENSP00000490653.2:n.*556C=
ENST00000636774.1:c.*2090C= ENSP00000489799.1:n.*2090C=
ENST00000637042.1:n.72-62C=
ENST00000637238.1:c.2394C= ENSP00000490756.1:n.2394C=
ENST00000637264.1:c.2555-57C=
ENST00000666746.1:c.3063C=
ENST00000672071.1:n.4688C=
ENST00000672695.1:n.1265C=
ENST00000672923.2:n.3486C=
ENST00000268124.9:c.3486C= ENSP00000268124.5:p.Cys1162=
ENST00000442287.6:c.3486C= ENSP00000399851.2:p.Cys1162=
ENST00000526671.1:n.296C=
ENST00000530292.2:c.669C= ENSP00000432885.1:n.669C=
ENST00000631044.2:c.*2910C= ENSP00000486730.1:n.*2910C=
NM_001126131.1:c.3486C= NP_001119603.1:p.Cys1162=
NM_002693.2:c.3486C= NP_002684.1:p.Cys1162=
NM_001126131.2:c.3486C= NP_001119603.1:p.Cys1162=
NM_002693.3:c.3486C= MANE Select NP_002684.1:p.Cys1162=