Canonical Allele Identifier: CA2194557881
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327198T= , CM000677.2:g.89327198T= GRCh38
NC_000015.9:g.89870429T= , CM000677.1:g.89870429T= GRCh37
NC_000015.8:g.87671433T= NCBI36
NG_008218.1:g.12598A=
NG_008218.2:g.12598A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1402A= ENSP00000516154.1:p.Asn468=
ENST00000268124.11:c.1402A= MANE Select ENSP00000268124.5:p.Asn468=
ENST00000530292.3:c.1003A= ENSP00000432885.2:p.Asn335=
ENST00000635986.2:c.1402A= ENSP00000490653.2:p.Asn468=
ENST00000636774.1:c.1402A= ENSP00000489799.1:p.Asn468=
ENST00000637238.1:c.139A= ENSP00000490756.1:p.Asn47=
ENST00000637264.1:c.474A=
ENST00000666746.1:c.979A=
ENST00000672071.1:n.1600A=
ENST00000672923.2:n.1505A=
ENST00000268124.9:c.1402A= ENSP00000268124.5:p.Asn468=
ENST00000442287.6:c.1402A= ENSP00000399851.2:p.Asn468=
ENST00000532363.2:n.260A=
ENST00000631044.2:c.*785A= ENSP00000486730.1:n.*785A=
NM_001126131.1:c.1402A= NP_001119603.1:p.Asn468=
NM_002693.2:c.1402A= NP_002684.1:p.Asn468=
NM_001126131.2:c.1402A= NP_001119603.1:p.Asn468=
NM_002693.3:c.1402A= MANE Select NP_002684.1:p.Asn468=