Canonical Allele Identifier: CA393756727
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323451T>A , CM000677.2:g.89323451T>A GRCh38
NC_000015.9:g.89866682T>A , CM000677.1:g.89866682T>A GRCh37
NC_000015.8:g.87667686T>A NCBI36
NG_008218.1:g.16345A>T
NG_008218.2:g.16345A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2218A>T ENSP00000516154.1:p.Asn740Tyr
ENST00000268124.11:c.2218A>T MANE Select ENSP00000268124.5:p.Asn740Tyr
ENST00000530292.3:c.1819A>T ENSP00000432885.2:p.Asn607Tyr
ENST00000635986.2:c.2218A>T ENSP00000490653.2:p.Asn740Tyr
ENST00000636774.1:c.*785A>T ENSP00000489799.1:n.*785A>T
ENST00000637238.1:c.915A>T ENSP00000490756.1:n.915A>T
ENST00000637264.1:c.1290A>T
ENST00000666746.1:c.1795A>T
ENST00000670281.1:c.538A>T ENSP00000499709.1:p.Asn180Tyr
ENST00000672071.1:n.2416A>T
ENST00000672923.2:n.2321A>T
ENST00000268124.9:c.2218A>T ENSP00000268124.5:p.Asn740Tyr
ENST00000442287.6:c.2218A>T ENSP00000399851.2:p.Asn740Tyr
ENST00000526314.2:c.539+364A>T
ENST00000526398.1:c.367A>T
ENST00000532584.5:n.420A>T
ENST00000631044.2:c.*1642A>T ENSP00000486730.1:n.*1642A>T
NM_001126131.1:c.2218A>T NP_001119603.1:p.Asn740Tyr
NM_002693.2:c.2218A>T NP_002684.1:p.Asn740Tyr
NM_001126131.2:c.2218A>T NP_001119603.1:p.Asn740Tyr
NM_002693.3:c.2218A>T MANE Select NP_002684.1:p.Asn740Tyr