Canonical Allele Identifier: CA2194539532
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317524G= , CM000677.2:g.89317524G= GRCh38
NC_000015.9:g.89860755G= , CM000677.1:g.89860755G= GRCh37
NC_000015.8:g.87661759G= NCBI36
NG_008218.1:g.22272C=
NG_011736.1:g.78562G= , LRG_500:g.78562G=
NG_008218.2:g.22272C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3495C= ENSP00000516154.1:p.Ala1165=
ENST00000268124.11:c.3495C= MANE Select ENSP00000268124.5:p.Ala1165=
ENST00000530292.3:c.3195C= ENSP00000432885.2:n.3195C=
ENST00000635986.2:c.*565C= ENSP00000490653.2:n.*565C=
ENST00000636774.1:c.*2099C= ENSP00000489799.1:n.*2099C=
ENST00000637042.1:n.72-53C=
ENST00000637238.1:c.2403C= ENSP00000490756.1:n.2403C=
ENST00000637264.1:c.2555-48C=
ENST00000666746.1:c.3072C=
ENST00000672071.1:n.4697C=
ENST00000672695.1:n.1274C=
ENST00000672923.2:n.3495C=
ENST00000268124.9:c.3495C= ENSP00000268124.5:p.Ala1165=
ENST00000442287.6:c.3495C= ENSP00000399851.2:p.Ala1165=
ENST00000526671.1:n.305C=
ENST00000530292.2:c.678C= ENSP00000432885.1:n.678C=
ENST00000631044.2:c.*2919C= ENSP00000486730.1:n.*2919C=
NM_001126131.1:c.3495C= NP_001119603.1:p.Ala1165=
NM_002693.2:c.3495C= NP_002684.1:p.Ala1165=
NM_001126131.2:c.3495C= NP_001119603.1:p.Ala1165=
NM_002693.3:c.3495C= MANE Select NP_002684.1:p.Ala1165=