Canonical Allele Identifier: CA472285553
Gene: SIRT3 HGNC NCBI

Linked Data

dbSNP Id: rs2133798191
gnomAD v4: 11-218991-T-G
MyVariant Identifiers: chr11:g.218991T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.218991T>G , CM000673.2:g.218991T>G GRCh38
NC_000011.9:g.218991T>G , CM000673.1:g.218991T>G GRCh37
NC_000011.8:g.208991T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382743.9:c.1020A>C MANE Select ENSP00000372191.4:p.Arg340=
ENST00000382743.8:c.1020A>C ENSP00000372191.4:p.Arg340=
ENST00000524564.5:c.828A>C ENSP00000432937.1:p.Arg276=
ENST00000525319.5:c.777A>C ENSP00000435464.1:p.Arg259=
ENST00000529382.5:c.594A>C ENSP00000437216.1:p.Arg198=
ENST00000529937.1:c.*1426A>C ENSP00000434747.1:n.*1426A>C
ENST00000532837.5:c.*733A>C ENSP00000433899.1:n.*733A>C
ENST00000532956.5:c.858A>C ENSP00000433077.1:p.Arg286=
NM_001017524.2:c.594A>C NP_001017524.1:p.Arg198=
NM_012239.5:c.1020A>C NP_036371.1:p.Arg340=
XM_005252835.1:c.1020A>C XP_005252892.1:p.Arg340=
XM_011519956.1:c.594A>C XP_011518258.1:p.Arg198=
XM_011519957.1:c.594A>C XP_011518259.1:p.Arg198=
XM_011519956.2:c.594A>C XP_011518258.1:p.Arg198=
XM_011519957.2:c.594A>C XP_011518259.1:p.Arg198=
XM_017017428.1:c.594A>C XP_016872917.1:p.Arg198=
XM_017017429.1:c.594A>C XP_016872918.1:p.Arg198=
XM_017017430.2:c.594A>C XP_016872919.1:p.Arg198=
XM_017017431.1:c.594A>C XP_016872920.1:p.Arg198=
XM_024448410.1:c.594A>C XP_024304178.1:p.Arg198=
XR_001747817.1:n.1143A>C
NM_012239.6:c.1020A>C MANE Select NP_036371.1:p.Arg340=
NM_001370310.1:c.1020A>C NP_001357239.1:p.Arg340=
NM_001370312.1:c.828A>C NP_001357241.1:p.Arg276=
NM_001370314.1:c.858A>C NP_001357243.1:p.Arg286=
NM_001370315.1:c.777A>C NP_001357244.1:p.Arg259=
NM_001370316.1:c.348A>C NP_001357245.1:p.Arg116=
NM_001370317.1:c.204A>C NP_001357246.1:p.Arg68=
NM_001370318.1:c.594A>C NP_001357247.1:p.Arg198=
NM_001370319.1:c.594A>C NP_001357248.1:p.Arg198=
NM_001370320.1:c.594A>C NP_001357249.1:p.Arg198=
NM_001370321.1:c.594A>C NP_001357250.1:p.Arg198=
NM_001370322.1:c.594A>C NP_001357251.1:p.Arg198=
NM_001370323.1:c.594A>C NP_001357252.1:p.Arg198=
NM_001370324.1:c.544-2273A>C NP_001357253.1:n.544-2273A>C
NM_001370325.1:c.544-2273A>C NP_001357254.1:n.544-2273A>C
NR_163386.1:n.1209A>C
NR_163387.1:n.1096A>C
NR_163388.1:n.1144A>C
NR_163389.1:n.1464A>C
NR_163390.1:n.1144A>C
NR_163391.1:n.1351A>C
NR_163392.1:n.1553A>C
NR_163393.1:n.1618A>C
NR_163394.1:n.1042A>C
NR_163395.1:n.1297A>C
NR_163396.1:n.1123A>C
NR_163397.1:n.929A>C
NR_163398.1:n.1042A>C
NR_163399.1:n.1443A>C
NR_163400.1:n.977A>C
NR_163401.1:n.1532A>C
NR_163402.1:n.1593A>C
NM_001017524.3:c.594A>C NP_001017524.1:p.Arg198=