Canonical Allele Identifier: CA393756627
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323406T>A , CM000677.2:g.89323406T>A GRCh38
NC_000015.9:g.89866637T>A , CM000677.1:g.89866637T>A GRCh37
NC_000015.8:g.87667641T>A NCBI36
NG_008218.1:g.16390A>T
NG_008218.2:g.16390A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2263A>T ENSP00000516154.1:p.Lys755Ter
ENST00000268124.11:c.2263A>T MANE Select ENSP00000268124.5:p.Lys755Ter
ENST00000530292.3:c.1864A>T ENSP00000432885.2:p.Lys622Ter
ENST00000635986.2:c.2263A>T ENSP00000490653.2:p.Lys755Ter
ENST00000636774.1:c.*830A>T ENSP00000489799.1:n.*830A>T
ENST00000637238.1:c.960A>T ENSP00000490756.1:n.960A>T
ENST00000637264.1:c.1335A>T
ENST00000666746.1:c.1840A>T
ENST00000670281.1:c.583A>T ENSP00000499709.1:p.Lys195Ter
ENST00000672071.1:n.2461A>T
ENST00000672923.2:n.2366A>T
ENST00000268124.9:c.2263A>T ENSP00000268124.5:p.Lys755Ter
ENST00000442287.6:c.2263A>T ENSP00000399851.2:p.Lys755Ter
ENST00000526314.2:c.539+409A>T
ENST00000526398.1:c.412A>T
ENST00000528881.2:c.32A>T
ENST00000530715.5:c.22A>T ENSP00000431395.1:p.Lys8Ter
ENST00000532584.5:n.465A>T
ENST00000631044.2:c.*1687A>T ENSP00000486730.1:n.*1687A>T
NM_001126131.1:c.2263A>T NP_001119603.1:p.Lys755Ter
NM_002693.2:c.2263A>T NP_002684.1:p.Lys755Ter
NM_001126131.2:c.2263A>T NP_001119603.1:p.Lys755Ter
NM_002693.3:c.2263A>T MANE Select NP_002684.1:p.Lys755Ter