Canonical Allele Identifier: CA2194542152
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318714G= , CM000677.2:g.89318714G= GRCh38
NC_000015.9:g.89861945G= , CM000677.1:g.89861945G= GRCh37
NC_000015.8:g.87662949G= NCBI36
NG_008218.1:g.21082C=
NG_011736.1:g.79752G= , LRG_500:g.79752G=
NG_008218.2:g.21082C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3309C= ENSP00000516154.1:p.Ser1103=
ENST00000268124.11:c.3309C= MANE Select ENSP00000268124.5:p.Ser1103=
ENST00000530292.3:c.2910C= ENSP00000432885.2:p.Ser970=
ENST00000635986.2:c.*379C= ENSP00000490653.2:n.*379C=
ENST00000636774.1:c.*1876C= ENSP00000489799.1:n.*1876C=
ENST00000637238.1:c.2118C= ENSP00000490756.1:n.2118C=
ENST00000637264.1:c.2381C=
ENST00000666746.1:c.2886C=
ENST00000672071.1:n.3507C=
ENST00000672695.1:n.486C=
ENST00000672923.2:n.3309C=
ENST00000268124.9:c.3309C= ENSP00000268124.5:p.Ser1103=
ENST00000442287.6:c.3309C= ENSP00000399851.2:p.Ser1103=
ENST00000530292.2:c.393C= ENSP00000432885.1:p.Ser131=
ENST00000631044.2:c.*2733C= ENSP00000486730.1:n.*2733C=
NM_001126131.1:c.3309C= NP_001119603.1:p.Ser1103=
NM_002693.2:c.3309C= NP_002684.1:p.Ser1103=
NM_001126131.2:c.3309C= NP_001119603.1:p.Ser1103=
NM_002693.3:c.3309C= MANE Select NP_002684.1:p.Ser1103=