Canonical Allele Identifier: CA393759461
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs777059857

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325658C>T , CM000677.2:g.89325658C>T GRCh38
NC_000015.9:g.89868889C>T , CM000677.1:g.89868889C>T GRCh37
NC_000015.8:g.87669893C>T NCBI36
NG_008218.1:g.14138G>A
NG_008218.2:g.14138G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1741G>A ENSP00000516154.1:p.Asp581Asn
ENST00000268124.11:c.1741G>A MANE Select ENSP00000268124.5:p.Asp581Asn
ENST00000530292.3:c.1342G>A ENSP00000432885.2:p.Asp448Asn
ENST00000635986.2:c.1741G>A ENSP00000490653.2:p.Asp581Asn
ENST00000636774.1:c.*308G>A ENSP00000489799.1:n.*308G>A
ENST00000637238.1:c.478G>A ENSP00000490756.1:p.Asp160Asn
ENST00000637264.1:c.813G>A
ENST00000666746.1:c.1318G>A
ENST00000670281.1:c.61G>A ENSP00000499709.1:p.Asp21Asn
ENST00000672071.1:n.1939G>A
ENST00000672923.2:n.1844G>A
ENST00000268124.9:c.1741G>A ENSP00000268124.5:p.Asp581Asn
ENST00000442287.6:c.1741G>A ENSP00000399851.2:p.Asp581Asn
ENST00000526314.2:c.123G>A
ENST00000631044.2:c.*1124G>A ENSP00000486730.1:n.*1124G>A
NM_001126131.1:c.1741G>A NP_001119603.1:p.Asp581Asn
NM_002693.2:c.1741G>A NP_002684.1:p.Asp581Asn
NM_001126131.2:c.1741G>A NP_001119603.1:p.Asp581Asn
NM_002693.3:c.1741G>A MANE Select NP_002684.1:p.Asp581Asn