Canonical Allele Identifier: CA2194548152
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320969G= , CM000677.2:g.89320969G= GRCh38
NC_000015.9:g.89864200G= , CM000677.1:g.89864200G= GRCh37
NC_000015.8:g.87665204G= NCBI36
NG_008218.1:g.18827C=
NG_008218.2:g.18827C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2778C= ENSP00000516154.1:p.Ser926=
ENST00000268124.11:c.2778C= MANE Select ENSP00000268124.5:p.Ser926=
ENST00000530292.3:c.2379C= ENSP00000432885.2:p.Ser793=
ENST00000635986.2:c.2778C= ENSP00000490653.2:p.Ser926=
ENST00000636774.1:c.*1345C= ENSP00000489799.1:n.*1345C=
ENST00000637238.1:c.1587C= ENSP00000490756.1:n.1587C=
ENST00000637264.1:c.1850C=
ENST00000666746.1:c.2355C=
ENST00000670281.1:c.800+993C= ENSP00000499709.1:n.800+993C=
ENST00000672071.1:n.2976C=
ENST00000672923.2:n.2720C=
ENST00000268124.9:c.2778C= ENSP00000268124.5:p.Ser926=
ENST00000442287.6:c.2778C= ENSP00000399851.2:p.Ser926=
ENST00000528881.2:c.375C=
ENST00000530715.5:c.186-100C= ENSP00000431395.1:n.186-100C=
ENST00000631044.2:c.*2202C= ENSP00000486730.1:n.*2202C=
NM_001126131.1:c.2778C= NP_001119603.1:p.Ser926=
NM_002693.2:c.2778C= NP_002684.1:p.Ser926=
NM_001126131.2:c.2778C= NP_001119603.1:p.Ser926=
NM_002693.3:c.2778C= MANE Select NP_002684.1:p.Ser926=