Canonical Allele Identifier: CA378857862
Gene: SIRT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.219021C>A , CM000673.2:g.219021C>A GRCh38
NC_000011.9:g.219021C>A , CM000673.1:g.219021C>A GRCh37
NC_000011.8:g.209021C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382743.9:c.990G>T MANE Select ENSP00000372191.4:p.Leu330Phe
ENST00000382743.8:c.990G>T ENSP00000372191.4:p.Leu330Phe
ENST00000524564.5:c.798G>T ENSP00000432937.1:p.Leu266Phe
ENST00000525319.5:c.747G>T ENSP00000435464.1:p.Leu249Phe
ENST00000529382.5:c.564G>T ENSP00000437216.1:p.Leu188Phe
ENST00000529937.1:c.*1396G>T ENSP00000434747.1:n.*1396G>T
ENST00000532837.5:c.*703G>T ENSP00000433899.1:n.*703G>T
ENST00000532956.5:c.828G>T ENSP00000433077.1:p.Leu276Phe
NM_001017524.2:c.564G>T NP_001017524.1:p.Leu188Phe
NM_012239.5:c.990G>T NP_036371.1:p.Leu330Phe
XM_005252835.1:c.990G>T XP_005252892.1:p.Leu330Phe
XM_011519956.1:c.564G>T XP_011518258.1:p.Leu188Phe
XM_011519957.1:c.564G>T XP_011518259.1:p.Leu188Phe
XM_011519956.2:c.564G>T XP_011518258.1:p.Leu188Phe
XM_011519957.2:c.564G>T XP_011518259.1:p.Leu188Phe
XM_017017428.1:c.564G>T XP_016872917.1:p.Leu188Phe
XM_017017429.1:c.564G>T XP_016872918.1:p.Leu188Phe
XM_017017430.2:c.564G>T XP_016872919.1:p.Leu188Phe
XM_017017431.1:c.564G>T XP_016872920.1:p.Leu188Phe
XM_024448410.1:c.564G>T XP_024304178.1:p.Leu188Phe
XR_001747817.1:n.1113G>T
NM_012239.6:c.990G>T MANE Select NP_036371.1:p.Leu330Phe
NM_001370310.1:c.990G>T NP_001357239.1:p.Leu330Phe
NM_001370312.1:c.798G>T NP_001357241.1:p.Leu266Phe
NM_001370314.1:c.828G>T NP_001357243.1:p.Leu276Phe
NM_001370315.1:c.747G>T NP_001357244.1:p.Leu249Phe
NM_001370316.1:c.318G>T NP_001357245.1:p.Leu106Phe
NM_001370317.1:c.174G>T NP_001357246.1:p.Leu58Phe
NM_001370318.1:c.564G>T NP_001357247.1:p.Leu188Phe
NM_001370319.1:c.564G>T NP_001357248.1:p.Leu188Phe
NM_001370320.1:c.564G>T NP_001357249.1:p.Leu188Phe
NM_001370321.1:c.564G>T NP_001357250.1:p.Leu188Phe
NM_001370322.1:c.564G>T NP_001357251.1:p.Leu188Phe
NM_001370323.1:c.564G>T NP_001357252.1:p.Leu188Phe
NM_001370324.1:c.544-2303G>T NP_001357253.1:n.544-2303G>T
NM_001370325.1:c.544-2303G>T NP_001357254.1:n.544-2303G>T
NR_163386.1:n.1179G>T
NR_163387.1:n.1066G>T
NR_163388.1:n.1114G>T
NR_163389.1:n.1434G>T
NR_163390.1:n.1114G>T
NR_163391.1:n.1321G>T
NR_163392.1:n.1523G>T
NR_163393.1:n.1588G>T
NR_163394.1:n.1012G>T
NR_163395.1:n.1267G>T
NR_163396.1:n.1093G>T
NR_163397.1:n.899G>T
NR_163398.1:n.1012G>T
NR_163399.1:n.1413G>T
NR_163400.1:n.947G>T
NR_163401.1:n.1502G>T
NR_163402.1:n.1563G>T
NM_001017524.3:c.564G>T NP_001017524.1:p.Leu188Phe