Canonical Allele Identifier: CA2194549824
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325466C= , CM000677.2:g.89325466C= GRCh38
NC_000015.9:g.89868697C= , CM000677.1:g.89868697C= GRCh37
NC_000015.8:g.87669701C= NCBI36
NG_008218.1:g.14330G=
NG_008218.2:g.14330G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1933G= ENSP00000516154.1:p.Val645=
ENST00000268124.11:c.1933G= MANE Select ENSP00000268124.5:p.Val645=
ENST00000530292.3:c.1534G= ENSP00000432885.2:p.Val512=
ENST00000635986.2:c.1933G= ENSP00000490653.2:p.Val645=
ENST00000636774.1:c.*500G= ENSP00000489799.1:n.*500G=
ENST00000637238.1:c.646+24G= ENSP00000490756.1:n.646+24G=
ENST00000637264.1:c.1005G=
ENST00000666746.1:c.1510G=
ENST00000670281.1:c.253G= ENSP00000499709.1:p.Val85=
ENST00000672071.1:n.2131G=
ENST00000672923.2:n.2036G=
ENST00000268124.9:c.1933G= ENSP00000268124.5:p.Val645=
ENST00000442287.6:c.1933G= ENSP00000399851.2:p.Val645=
ENST00000526314.2:c.315G=
ENST00000526398.1:c.122G=
ENST00000526573.1:n.19G=
ENST00000532584.5:n.135G=
ENST00000631044.2:c.*1316G= ENSP00000486730.1:n.*1316G=
NM_001126131.1:c.1933G= NP_001119603.1:p.Val645=
NM_002693.2:c.1933G= NP_002684.1:p.Val645=
NM_001126131.2:c.1933G= NP_001119603.1:p.Val645=
NM_002693.3:c.1933G= MANE Select NP_002684.1:p.Val645=