Canonical Allele Identifier: CA2194561677
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328737G= , CM000677.2:g.89328737G= GRCh38
NC_000015.9:g.89871968G= , CM000677.1:g.89871968G= GRCh37
NC_000015.8:g.87672972G= NCBI36
NG_008218.1:g.11059C=
NG_008218.2:g.11059C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1118C= ENSP00000516154.1:p.Pro373=
ENST00000268124.11:c.1118C= MANE Select ENSP00000268124.5:p.Pro373=
ENST00000530292.3:c.719C= ENSP00000432885.2:p.Pro240=
ENST00000635986.2:c.1118C= ENSP00000490653.2:p.Pro373=
ENST00000636774.1:c.1118C= ENSP00000489799.1:p.Pro373=
ENST00000637264.1:c.190C=
ENST00000666746.1:c.775C=
ENST00000672071.1:n.1316C=
ENST00000672923.2:n.115C=
ENST00000268124.9:c.1118C= ENSP00000268124.5:p.Pro373=
ENST00000442287.6:c.1118C= ENSP00000399851.2:p.Pro373=
ENST00000631044.2:c.*501C= ENSP00000486730.1:n.*501C=
NM_001126131.1:c.1118C= NP_001119603.1:p.Pro373=
NM_002693.2:c.1118C= NP_002684.1:p.Pro373=
NM_001126131.2:c.1118C= NP_001119603.1:p.Pro373=
NM_002693.3:c.1118C= MANE Select NP_002684.1:p.Pro373=