Canonical Allele Identifier: CA2194543251
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89319069A= , CM000677.2:g.89319069A= GRCh38
NC_000015.9:g.89862300A= , CM000677.1:g.89862300A= GRCh37
NC_000015.8:g.87663304A= NCBI36
NG_008218.1:g.20727T=
NG_011736.1:g.80107A= , LRG_500:g.80107A=
NG_008218.2:g.20727T=

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.3135T= ENSP00000516154.1:p.Ala1045=
ENST00000268124.11:c.3135T= MANE Select ENSP00000268124.5:p.Ala1045=
ENST00000530292.3:c.2736T= ENSP00000432885.2:p.Ala912=
ENST00000635986.2:c.*205T= ENSP00000490653.2:n.*205T=
ENST00000636530.1:n.95T=
ENST00000636774.1:c.*1702T= ENSP00000489799.1:n.*1702T=
ENST00000637238.1:c.1944T= ENSP00000490756.1:n.1944T=
ENST00000637264.1:c.2207T=
ENST00000666746.1:c.2712T=
ENST00000672071.1:n.3333T=
ENST00000672695.1:n.312T=
ENST00000672923.2:n.3135T=
ENST00000268124.9:c.3135T= ENSP00000268124.5:p.Ala1045=
ENST00000442287.6:c.3135T= ENSP00000399851.2:p.Ala1045=
ENST00000530292.2:c.219T= ENSP00000432885.1:p.Ala73=
ENST00000631044.2:c.*2559T= ENSP00000486730.1:n.*2559T=
NM_001126131.1:c.3135T= NP_001119603.1:p.Ala1045=
NM_002693.2:c.3135T= NP_002684.1:p.Ala1045=
NM_001126131.2:c.3135T= NP_001119603.1:p.Ala1045=
NM_002693.3:c.3135T= MANE Select NP_002684.1:p.Ala1045=