Canonical Allele Identifier: CA472285729
Gene: SIRT3 HGNC NCBI

Linked Data

dbSNP Id: rs1384520200
gnomAD v2: 11-219036-C-T
gnomAD v4: 11-219036-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.219036C>T , CM000673.2:g.219036C>T GRCh38
NC_000011.9:g.219036C>T , CM000673.1:g.219036C>T GRCh37
NC_000011.8:g.209036C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382743.9:c.975G>A MANE Select ENSP00000372191.4:p.Glu325=
ENST00000382743.8:c.975G>A ENSP00000372191.4:p.Glu325=
ENST00000524564.5:c.783G>A ENSP00000432937.1:p.Glu261=
ENST00000525319.5:c.732G>A ENSP00000435464.1:p.Glu244=
ENST00000529382.5:c.549G>A ENSP00000437216.1:p.Glu183=
ENST00000529937.1:c.*1381G>A ENSP00000434747.1:n.*1381G>A
ENST00000532837.5:c.*688G>A ENSP00000433899.1:n.*688G>A
ENST00000532956.5:c.813G>A ENSP00000433077.1:p.Glu271=
NM_001017524.2:c.549G>A NP_001017524.1:p.Glu183=
NM_012239.5:c.975G>A NP_036371.1:p.Glu325=
XM_005252835.1:c.975G>A XP_005252892.1:p.Glu325=
XM_011519956.1:c.549G>A XP_011518258.1:p.Glu183=
XM_011519957.1:c.549G>A XP_011518259.1:p.Glu183=
XM_011519956.2:c.549G>A XP_011518258.1:p.Glu183=
XM_011519957.2:c.549G>A XP_011518259.1:p.Glu183=
XM_017017428.1:c.549G>A XP_016872917.1:p.Glu183=
XM_017017429.1:c.549G>A XP_016872918.1:p.Glu183=
XM_017017430.2:c.549G>A XP_016872919.1:p.Glu183=
XM_017017431.1:c.549G>A XP_016872920.1:p.Glu183=
XM_024448410.1:c.549G>A XP_024304178.1:p.Glu183=
XR_001747817.1:n.1098G>A
NM_012239.6:c.975G>A MANE Select NP_036371.1:p.Glu325=
NM_001370310.1:c.975G>A NP_001357239.1:p.Glu325=
NM_001370312.1:c.783G>A NP_001357241.1:p.Glu261=
NM_001370314.1:c.813G>A NP_001357243.1:p.Glu271=
NM_001370315.1:c.732G>A NP_001357244.1:p.Glu244=
NM_001370316.1:c.303G>A NP_001357245.1:p.Glu101=
NM_001370317.1:c.159G>A NP_001357246.1:p.Glu53=
NM_001370318.1:c.549G>A NP_001357247.1:p.Glu183=
NM_001370319.1:c.549G>A NP_001357248.1:p.Glu183=
NM_001370320.1:c.549G>A NP_001357249.1:p.Glu183=
NM_001370321.1:c.549G>A NP_001357250.1:p.Glu183=
NM_001370322.1:c.549G>A NP_001357251.1:p.Glu183=
NM_001370323.1:c.549G>A NP_001357252.1:p.Glu183=
NM_001370324.1:c.544-2318G>A NP_001357253.1:n.544-2318G>A
NM_001370325.1:c.544-2318G>A NP_001357254.1:n.544-2318G>A
NR_163386.1:n.1164G>A
NR_163387.1:n.1051G>A
NR_163388.1:n.1099G>A
NR_163389.1:n.1419G>A
NR_163390.1:n.1099G>A
NR_163391.1:n.1306G>A
NR_163392.1:n.1508G>A
NR_163393.1:n.1573G>A
NR_163394.1:n.997G>A
NR_163395.1:n.1252G>A
NR_163396.1:n.1078G>A
NR_163397.1:n.884G>A
NR_163398.1:n.997G>A
NR_163399.1:n.1398G>A
NR_163400.1:n.932G>A
NR_163401.1:n.1487G>A
NR_163402.1:n.1548G>A
NM_001017524.3:c.549G>A NP_001017524.1:p.Glu183=