Canonical Allele Identifier: CA393756779
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323467A>T , CM000677.2:g.89323467A>T GRCh38
NC_000015.9:g.89866698A>T , CM000677.1:g.89866698A>T GRCh37
NC_000015.8:g.87667702A>T NCBI36
NG_008218.1:g.16329T>A
NG_008218.2:g.16329T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2202T>A ENSP00000516154.1:p.His734Gln
ENST00000268124.11:c.2202T>A MANE Select ENSP00000268124.5:p.His734Gln
ENST00000530292.3:c.1803T>A ENSP00000432885.2:p.His601Gln
ENST00000635986.2:c.2202T>A ENSP00000490653.2:p.His734Gln
ENST00000636774.1:c.*769T>A ENSP00000489799.1:n.*769T>A
ENST00000637238.1:c.899T>A ENSP00000490756.1:n.899T>A
ENST00000637264.1:c.1274T>A
ENST00000666746.1:c.1779T>A
ENST00000670281.1:c.522T>A ENSP00000499709.1:p.His174Gln
ENST00000672071.1:n.2400T>A
ENST00000672923.2:n.2305T>A
ENST00000268124.9:c.2202T>A ENSP00000268124.5:p.His734Gln
ENST00000442287.6:c.2202T>A ENSP00000399851.2:p.His734Gln
ENST00000526314.2:c.539+348T>A
ENST00000526398.1:c.351T>A
ENST00000532584.5:n.404T>A
ENST00000631044.2:c.*1626T>A ENSP00000486730.1:n.*1626T>A
NM_001126131.1:c.2202T>A NP_001119603.1:p.His734Gln
NM_002693.2:c.2202T>A NP_002684.1:p.His734Gln
NM_001126131.2:c.2202T>A NP_001119603.1:p.His734Gln
NM_002693.3:c.2202T>A MANE Select NP_002684.1:p.His734Gln