Canonical Allele Identifier: CA2194565337
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89330175C= , CM000677.2:g.89330175C= GRCh38
NC_000015.9:g.89873406C= , CM000677.1:g.89873406C= GRCh37
NC_000015.8:g.87674410C= NCBI36
NG_008218.1:g.9621G=
NG_008218.2:g.9621G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.761G= ENSP00000516154.1:p.Ser254=
ENST00000268124.11:c.761G= MANE Select ENSP00000268124.5:p.Ser254=
ENST00000530292.3:c.362G= ENSP00000432885.2:p.Ser121=
ENST00000635986.2:c.761G= ENSP00000490653.2:p.Ser254=
ENST00000636774.1:c.761G= ENSP00000489799.1:p.Ser254=
ENST00000666746.1:c.418G=
ENST00000672071.1:n.959G=
ENST00000268124.9:c.761G= ENSP00000268124.5:p.Ser254=
ENST00000442287.6:c.761G= ENSP00000399851.2:p.Ser254=
ENST00000631044.2:c.*144G= ENSP00000486730.1:n.*144G=
NM_001126131.1:c.761G= NP_001119603.1:p.Ser254=
NM_002693.2:c.761G= NP_002684.1:p.Ser254=
NM_001126131.2:c.761G= NP_001119603.1:p.Ser254=
NM_002693.3:c.761G= MANE Select NP_002684.1:p.Ser254=