Canonical Allele Identifier: CA2194539551
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317527A= , CM000677.2:g.89317527A= GRCh38
NC_000015.9:g.89860758A= , CM000677.1:g.89860758A= GRCh37
NC_000015.8:g.87661762A= NCBI36
NG_008218.1:g.22269T=
NG_011736.1:g.78565A= , LRG_500:g.78565A=
NG_008218.2:g.22269T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3492T= ENSP00000516154.1:p.Phe1164=
ENST00000268124.11:c.3492T= MANE Select ENSP00000268124.5:p.Phe1164=
ENST00000530292.3:c.3192T= ENSP00000432885.2:n.3192T=
ENST00000635986.2:c.*562T= ENSP00000490653.2:n.*562T=
ENST00000636774.1:c.*2096T= ENSP00000489799.1:n.*2096T=
ENST00000637042.1:n.72-56T=
ENST00000637238.1:c.2400T= ENSP00000490756.1:n.2400T=
ENST00000637264.1:c.2555-51T=
ENST00000666746.1:c.3069T=
ENST00000672071.1:n.4694T=
ENST00000672695.1:n.1271T=
ENST00000672923.2:n.3492T=
ENST00000268124.9:c.3492T= ENSP00000268124.5:p.Phe1164=
ENST00000442287.6:c.3492T= ENSP00000399851.2:p.Phe1164=
ENST00000526671.1:n.302T=
ENST00000530292.2:c.675T= ENSP00000432885.1:n.675T=
ENST00000631044.2:c.*2916T= ENSP00000486730.1:n.*2916T=
NM_001126131.1:c.3492T= NP_001119603.1:p.Phe1164=
NM_002693.2:c.3492T= NP_002684.1:p.Phe1164=
NM_001126131.2:c.3492T= NP_001119603.1:p.Phe1164=
NM_002693.3:c.3492T= MANE Select NP_002684.1:p.Phe1164=