Canonical Allele Identifier: CA2194565139
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89330094T= , CM000677.2:g.89330094T= GRCh38
NC_000015.9:g.89873325T= , CM000677.1:g.89873325T= GRCh37
NC_000015.8:g.87674329T= NCBI36
NG_008218.1:g.9702A=
NG_008218.2:g.9702A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.842A= ENSP00000516154.1:p.Gln281=
ENST00000268124.11:c.842A= MANE Select ENSP00000268124.5:p.Gln281=
ENST00000530292.3:c.443A= ENSP00000432885.2:p.Gln148=
ENST00000635986.2:c.842A= ENSP00000490653.2:p.Gln281=
ENST00000636774.1:c.842A= ENSP00000489799.1:p.Gln281=
ENST00000666746.1:c.499A=
ENST00000672071.1:n.1040A=
ENST00000268124.9:c.842A= ENSP00000268124.5:p.Gln281=
ENST00000442287.6:c.842A= ENSP00000399851.2:p.Gln281=
ENST00000631044.2:c.*225A= ENSP00000486730.1:n.*225A=
NM_001126131.1:c.842A= NP_001119603.1:p.Gln281=
NM_002693.2:c.842A= NP_002684.1:p.Gln281=
NM_001126131.2:c.842A= NP_001119603.1:p.Gln281=
NM_002693.3:c.842A= MANE Select NP_002684.1:p.Gln281=