Canonical Allele Identifier: CA2194542223
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318736C= , CM000677.2:g.89318736C= GRCh38
NC_000015.9:g.89861967C= , CM000677.1:g.89861967C= GRCh37
NC_000015.8:g.87662971C= NCBI36
NG_008218.1:g.21060G=
NG_011736.1:g.79774C= , LRG_500:g.79774C=
NG_008218.2:g.21060G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3287G= ENSP00000516154.1:p.Arg1096=
ENST00000268124.11:c.3287G= MANE Select ENSP00000268124.5:p.Arg1096=
ENST00000530292.3:c.2888G= ENSP00000432885.2:p.Arg963=
ENST00000635986.2:c.*357G= ENSP00000490653.2:n.*357G=
ENST00000636774.1:c.*1854G= ENSP00000489799.1:n.*1854G=
ENST00000637238.1:c.2096G= ENSP00000490756.1:n.2096G=
ENST00000637264.1:c.2359G=
ENST00000666746.1:c.2864G=
ENST00000672071.1:n.3485G=
ENST00000672695.1:n.464G=
ENST00000672923.2:n.3287G=
ENST00000268124.9:c.3287G= ENSP00000268124.5:p.Arg1096=
ENST00000442287.6:c.3287G= ENSP00000399851.2:p.Arg1096=
ENST00000530292.2:c.371G= ENSP00000432885.1:p.Arg124=
ENST00000631044.2:c.*2711G= ENSP00000486730.1:n.*2711G=
NM_001126131.1:c.3287G= NP_001119603.1:p.Arg1096=
NM_002693.2:c.3287G= NP_002684.1:p.Arg1096=
NM_001126131.2:c.3287G= NP_001119603.1:p.Arg1096=
NM_002693.3:c.3287G= MANE Select NP_002684.1:p.Arg1096=