Canonical Allele Identifier: CA2194541869
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318641G= , CM000677.2:g.89318641G= GRCh38
NC_000015.9:g.89861872G= , CM000677.1:g.89861872G= GRCh37
NC_000015.8:g.87662876G= NCBI36
NG_008218.1:g.21155C=
NG_011736.1:g.79679G= , LRG_500:g.79679G=
NG_008218.2:g.21155C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3382C= ENSP00000516154.1:p.Arg1128=
ENST00000268124.11:c.3382C= MANE Select ENSP00000268124.5:p.Arg1128=
ENST00000530292.3:c.2983C= ENSP00000432885.2:p.Arg995=
ENST00000635986.2:c.*452C= ENSP00000490653.2:n.*452C=
ENST00000636774.1:c.*1949C= ENSP00000489799.1:n.*1949C=
ENST00000637238.1:c.2191C= ENSP00000490756.1:n.2191C=
ENST00000637264.1:c.2454C=
ENST00000666746.1:c.2959C=
ENST00000672071.1:n.3580C=
ENST00000672695.1:n.559C=
ENST00000672923.2:n.3382C=
ENST00000268124.9:c.3382C= ENSP00000268124.5:p.Arg1128=
ENST00000442287.6:c.3382C= ENSP00000399851.2:p.Arg1128=
ENST00000530292.2:c.466C= ENSP00000432885.1:p.Arg156=
ENST00000631044.2:c.*2806C= ENSP00000486730.1:n.*2806C=
NM_001126131.1:c.3382C= NP_001119603.1:p.Arg1128=
NM_002693.2:c.3382C= NP_002684.1:p.Arg1128=
NM_001126131.2:c.3382C= NP_001119603.1:p.Arg1128=
NM_002693.3:c.3382C= MANE Select NP_002684.1:p.Arg1128=