Canonical Allele Identifier: CA2194541934
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318660T= , CM000677.2:g.89318660T= GRCh38
NC_000015.9:g.89861891T= , CM000677.1:g.89861891T= GRCh37
NC_000015.8:g.87662895T= NCBI36
NG_008218.1:g.21136A=
NG_011736.1:g.79698T= , LRG_500:g.79698T=
NG_008218.2:g.21136A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3363A= ENSP00000516154.1:p.Glu1121=
ENST00000268124.11:c.3363A= MANE Select ENSP00000268124.5:p.Glu1121=
ENST00000530292.3:c.2964A= ENSP00000432885.2:p.Glu988=
ENST00000635986.2:c.*433A= ENSP00000490653.2:n.*433A=
ENST00000636774.1:c.*1930A= ENSP00000489799.1:n.*1930A=
ENST00000637238.1:c.2172A= ENSP00000490756.1:n.2172A=
ENST00000637264.1:c.2435A=
ENST00000666746.1:c.2940A=
ENST00000672071.1:n.3561A=
ENST00000672695.1:n.540A=
ENST00000672923.2:n.3363A=
ENST00000268124.9:c.3363A= ENSP00000268124.5:p.Glu1121=
ENST00000442287.6:c.3363A= ENSP00000399851.2:p.Glu1121=
ENST00000530292.2:c.447A= ENSP00000432885.1:p.Glu149=
ENST00000631044.2:c.*2787A= ENSP00000486730.1:n.*2787A=
NM_001126131.1:c.3363A= NP_001119603.1:p.Glu1121=
NM_002693.2:c.3363A= NP_002684.1:p.Glu1121=
NM_001126131.2:c.3363A= NP_001119603.1:p.Glu1121=
NM_002693.3:c.3363A= MANE Select NP_002684.1:p.Glu1121=