Canonical Allele Identifier: CA2194539364
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317494C= , CM000677.2:g.89317494C= GRCh38
NC_000015.9:g.89860725C= , CM000677.1:g.89860725C= GRCh37
NC_000015.8:g.87661729C= NCBI36
NG_008218.1:g.22302G=
NG_011736.1:g.78532C= , LRG_500:g.78532C=
NG_008218.2:g.22302G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3525G= ENSP00000516154.1:p.Gln1175=
ENST00000268124.11:c.3525G= MANE Select ENSP00000268124.5:p.Gln1175=
ENST00000530292.3:c.3225G= ENSP00000432885.2:n.3225G=
ENST00000635986.2:c.*595G= ENSP00000490653.2:n.*595G=
ENST00000636774.1:c.*2129G= ENSP00000489799.1:n.*2129G=
ENST00000637042.1:n.72-23G=
ENST00000637238.1:c.2433G= ENSP00000490756.1:n.2433G=
ENST00000637264.1:c.2555-18G=
ENST00000666746.1:c.3102G=
ENST00000672071.1:n.4727G=
ENST00000672695.1:n.1304G=
ENST00000672923.2:n.3525G=
ENST00000268124.9:c.3525G= ENSP00000268124.5:p.Gln1175=
ENST00000442287.6:c.3525G= ENSP00000399851.2:p.Gln1175=
ENST00000526671.1:n.335G=
ENST00000530292.2:c.708G= ENSP00000432885.1:n.708G=
ENST00000631044.2:c.*2949G= ENSP00000486730.1:n.*2949G=
NM_001126131.1:c.3525G= NP_001119603.1:p.Gln1175=
NM_002693.2:c.3525G= NP_002684.1:p.Gln1175=
NM_001126131.2:c.3525G= NP_001119603.1:p.Gln1175=
NM_002693.3:c.3525G= MANE Select NP_002684.1:p.Gln1175=