Canonical Allele Identifier: CA2194541939
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318661T= , CM000677.2:g.89318661T= GRCh38
NC_000015.9:g.89861892T= , CM000677.1:g.89861892T= GRCh37
NC_000015.8:g.87662896T= NCBI36
NG_008218.1:g.21135A=
NG_011736.1:g.79699T= , LRG_500:g.79699T=
NG_008218.2:g.21135A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3362A= ENSP00000516154.1:p.Glu1121=
ENST00000268124.11:c.3362A= MANE Select ENSP00000268124.5:p.Glu1121=
ENST00000530292.3:c.2963A= ENSP00000432885.2:p.Glu988=
ENST00000635986.2:c.*432A= ENSP00000490653.2:n.*432A=
ENST00000636774.1:c.*1929A= ENSP00000489799.1:n.*1929A=
ENST00000637238.1:c.2171A= ENSP00000490756.1:n.2171A=
ENST00000637264.1:c.2434A=
ENST00000666746.1:c.2939A=
ENST00000672071.1:n.3560A=
ENST00000672695.1:n.539A=
ENST00000672923.2:n.3362A=
ENST00000268124.9:c.3362A= ENSP00000268124.5:p.Glu1121=
ENST00000442287.6:c.3362A= ENSP00000399851.2:p.Glu1121=
ENST00000530292.2:c.446A= ENSP00000432885.1:p.Glu149=
ENST00000631044.2:c.*2786A= ENSP00000486730.1:n.*2786A=
NM_001126131.1:c.3362A= NP_001119603.1:p.Glu1121=
NM_002693.2:c.3362A= NP_002684.1:p.Glu1121=
NM_001126131.2:c.3362A= NP_001119603.1:p.Glu1121=
NM_002693.3:c.3362A= MANE Select NP_002684.1:p.Glu1121=