Canonical Allele Identifier: CA2194539271
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317463C= , CM000677.2:g.89317463C= GRCh38
NC_000015.9:g.89860694C= , CM000677.1:g.89860694C= GRCh37
NC_000015.8:g.87661698C= NCBI36
NG_008218.1:g.22333G=
NG_011736.1:g.78501C= , LRG_500:g.78501C=
NG_008218.2:g.22333G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3556G= ENSP00000516154.1:p.Asp1186=
ENST00000268124.11:c.3556G= MANE Select ENSP00000268124.5:p.Asp1186=
ENST00000530292.3:c.3256G= ENSP00000432885.2:n.3256G=
ENST00000635986.2:c.*626G= ENSP00000490653.2:n.*626G=
ENST00000636774.1:c.*2160G= ENSP00000489799.1:n.*2160G=
ENST00000637042.1:n.80G=
ENST00000637238.1:c.2464G= ENSP00000490756.1:n.2464G=
ENST00000637264.1:c.2568G=
ENST00000666746.1:c.3133G=
ENST00000672071.1:n.4758G=
ENST00000672695.1:n.1335G=
ENST00000672923.2:n.3556G=
ENST00000268124.9:c.3556G= ENSP00000268124.5:p.Asp1186=
ENST00000442287.6:c.3556G= ENSP00000399851.2:p.Asp1186=
ENST00000526671.1:n.366G=
ENST00000530292.2:c.739G= ENSP00000432885.1:n.739G=
ENST00000631044.2:c.*2980G= ENSP00000486730.1:n.*2980G=
NM_001126131.1:c.3556G= NP_001119603.1:p.Asp1186=
NM_002693.2:c.3556G= NP_002684.1:p.Asp1186=
NM_001126131.2:c.3556G= NP_001119603.1:p.Asp1186=
NM_002693.3:c.3556G= MANE Select NP_002684.1:p.Asp1186=