Canonical Allele Identifier: CA393754232
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321753T>A , CM000677.2:g.89321753T>A GRCh38
NC_000015.9:g.89864984T>A , CM000677.1:g.89864984T>A GRCh37
NC_000015.8:g.87665988T>A NCBI36
NG_008218.1:g.18043A>T
NG_008218.2:g.18043A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2581A>T ENSP00000516154.1:p.Thr861Ser
ENST00000268124.11:c.2581A>T MANE Select ENSP00000268124.5:p.Thr861Ser
ENST00000530292.3:c.2182A>T ENSP00000432885.2:p.Thr728Ser
ENST00000635986.2:c.2581A>T ENSP00000490653.2:p.Thr861Ser
ENST00000636774.1:c.*1148A>T ENSP00000489799.1:n.*1148A>T
ENST00000637238.1:c.1278A>T ENSP00000490756.1:n.1278A>T
ENST00000637264.1:c.1653A>T
ENST00000666746.1:c.2158A>T
ENST00000670281.1:c.800+209A>T ENSP00000499709.1:n.800+209A>T
ENST00000672071.1:n.2779A>T
ENST00000672923.2:n.2523A>T
ENST00000268124.9:c.2581A>T ENSP00000268124.5:p.Thr861Ser
ENST00000442287.6:c.2581A>T ENSP00000399851.2:p.Thr861Ser
ENST00000528881.2:c.196-493A>T
ENST00000530715.5:c.186-884A>T ENSP00000431395.1:n.186-884A>T
ENST00000631044.2:c.*2005A>T ENSP00000486730.1:n.*2005A>T
NM_001126131.1:c.2581A>T NP_001119603.1:p.Thr861Ser
NM_002693.2:c.2581A>T NP_002684.1:p.Thr861Ser
NM_001126131.2:c.2581A>T NP_001119603.1:p.Thr861Ser
NM_002693.3:c.2581A>T MANE Select NP_002684.1:p.Thr861Ser