Canonical Allele Identifier: CA378857812
Gene: SIRT3 HGNC NCBI

Linked Data

gnomAD v4: 11-218992-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.218992C>G , CM000673.2:g.218992C>G GRCh38
NC_000011.9:g.218992C>G , CM000673.1:g.218992C>G GRCh37
NC_000011.8:g.208992C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382743.9:c.1019G>C MANE Select ENSP00000372191.4:p.Arg340Pro
ENST00000382743.8:c.1019G>C ENSP00000372191.4:p.Arg340Pro
ENST00000524564.5:c.827G>C ENSP00000432937.1:p.Arg276Pro
ENST00000525319.5:c.776G>C ENSP00000435464.1:p.Arg259Pro
ENST00000529382.5:c.593G>C ENSP00000437216.1:p.Arg198Pro
ENST00000529937.1:c.*1425G>C ENSP00000434747.1:n.*1425G>C
ENST00000532837.5:c.*732G>C ENSP00000433899.1:n.*732G>C
ENST00000532956.5:c.857G>C ENSP00000433077.1:p.Arg286Pro
NM_001017524.2:c.593G>C NP_001017524.1:p.Arg198Pro
NM_012239.5:c.1019G>C NP_036371.1:p.Arg340Pro
XM_005252835.1:c.1019G>C XP_005252892.1:p.Arg340Pro
XM_011519956.1:c.593G>C XP_011518258.1:p.Arg198Pro
XM_011519957.1:c.593G>C XP_011518259.1:p.Arg198Pro
XM_011519956.2:c.593G>C XP_011518258.1:p.Arg198Pro
XM_011519957.2:c.593G>C XP_011518259.1:p.Arg198Pro
XM_017017428.1:c.593G>C XP_016872917.1:p.Arg198Pro
XM_017017429.1:c.593G>C XP_016872918.1:p.Arg198Pro
XM_017017430.2:c.593G>C XP_016872919.1:p.Arg198Pro
XM_017017431.1:c.593G>C XP_016872920.1:p.Arg198Pro
XM_024448410.1:c.593G>C XP_024304178.1:p.Arg198Pro
XR_001747817.1:n.1142G>C
NM_012239.6:c.1019G>C MANE Select NP_036371.1:p.Arg340Pro
NM_001370310.1:c.1019G>C NP_001357239.1:p.Arg340Pro
NM_001370312.1:c.827G>C NP_001357241.1:p.Arg276Pro
NM_001370314.1:c.857G>C NP_001357243.1:p.Arg286Pro
NM_001370315.1:c.776G>C NP_001357244.1:p.Arg259Pro
NM_001370316.1:c.347G>C NP_001357245.1:p.Arg116Pro
NM_001370317.1:c.203G>C NP_001357246.1:p.Arg68Pro
NM_001370318.1:c.593G>C NP_001357247.1:p.Arg198Pro
NM_001370319.1:c.593G>C NP_001357248.1:p.Arg198Pro
NM_001370320.1:c.593G>C NP_001357249.1:p.Arg198Pro
NM_001370321.1:c.593G>C NP_001357250.1:p.Arg198Pro
NM_001370322.1:c.593G>C NP_001357251.1:p.Arg198Pro
NM_001370323.1:c.593G>C NP_001357252.1:p.Arg198Pro
NM_001370324.1:c.544-2274G>C NP_001357253.1:n.544-2274G>C
NM_001370325.1:c.544-2274G>C NP_001357254.1:n.544-2274G>C
NR_163386.1:n.1208G>C
NR_163387.1:n.1095G>C
NR_163388.1:n.1143G>C
NR_163389.1:n.1463G>C
NR_163390.1:n.1143G>C
NR_163391.1:n.1350G>C
NR_163392.1:n.1552G>C
NR_163393.1:n.1617G>C
NR_163394.1:n.1041G>C
NR_163395.1:n.1296G>C
NR_163396.1:n.1122G>C
NR_163397.1:n.928G>C
NR_163398.1:n.1041G>C
NR_163399.1:n.1442G>C
NR_163400.1:n.976G>C
NR_163401.1:n.1531G>C
NR_163402.1:n.1592G>C
NM_001017524.3:c.593G>C NP_001017524.1:p.Arg198Pro