Canonical Allele Identifier: CA393756817
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323475A>T , CM000677.2:g.89323475A>T GRCh38
NC_000015.9:g.89866706A>T , CM000677.1:g.89866706A>T GRCh37
NC_000015.8:g.87667710A>T NCBI36
NG_008218.1:g.16321T>A
NG_008218.2:g.16321T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2194T>A ENSP00000516154.1:p.Tyr732Asn
ENST00000268124.11:c.2194T>A MANE Select ENSP00000268124.5:p.Tyr732Asn
ENST00000530292.3:c.1795T>A ENSP00000432885.2:p.Tyr599Asn
ENST00000635986.2:c.2194T>A ENSP00000490653.2:p.Tyr732Asn
ENST00000636774.1:c.*761T>A ENSP00000489799.1:n.*761T>A
ENST00000637238.1:c.891T>A ENSP00000490756.1:n.891T>A
ENST00000637264.1:c.1266T>A
ENST00000666746.1:c.1771T>A
ENST00000670281.1:c.514T>A ENSP00000499709.1:p.Tyr172Asn
ENST00000672071.1:n.2392T>A
ENST00000672923.2:n.2297T>A
ENST00000268124.9:c.2194T>A ENSP00000268124.5:p.Tyr732Asn
ENST00000442287.6:c.2194T>A ENSP00000399851.2:p.Tyr732Asn
ENST00000526314.2:c.539+340T>A
ENST00000526398.1:c.343T>A
ENST00000532584.5:n.396T>A
ENST00000631044.2:c.*1618T>A ENSP00000486730.1:n.*1618T>A
NM_001126131.1:c.2194T>A NP_001119603.1:p.Tyr732Asn
NM_002693.2:c.2194T>A NP_002684.1:p.Tyr732Asn
NM_001126131.2:c.2194T>A NP_001119603.1:p.Tyr732Asn
NM_002693.3:c.2194T>A MANE Select NP_002684.1:p.Tyr732Asn