Canonical Allele Identifier: CA378857870
Gene: SIRT3 HGNC NCBI

Linked Data

dbSNP Id: rs1856042065
gnomAD v3: 11-219024-G-T
gnomAD v4: 11-219024-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.219024G>T , CM000673.2:g.219024G>T GRCh38
NC_000011.9:g.219024G>T , CM000673.1:g.219024G>T GRCh37
NC_000011.8:g.209024G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382743.9:c.987C>A MANE Select ENSP00000372191.4:p.Ser329Arg
ENST00000382743.8:c.987C>A ENSP00000372191.4:p.Ser329Arg
ENST00000524564.5:c.795C>A ENSP00000432937.1:p.Ser265Arg
ENST00000525319.5:c.744C>A ENSP00000435464.1:p.Ser248Arg
ENST00000529382.5:c.561C>A ENSP00000437216.1:p.Ser187Arg
ENST00000529937.1:c.*1393C>A ENSP00000434747.1:n.*1393C>A
ENST00000532837.5:c.*700C>A ENSP00000433899.1:n.*700C>A
ENST00000532956.5:c.825C>A ENSP00000433077.1:p.Ser275Arg
NM_001017524.2:c.561C>A NP_001017524.1:p.Ser187Arg
NM_012239.5:c.987C>A NP_036371.1:p.Ser329Arg
XM_005252835.1:c.987C>A XP_005252892.1:p.Ser329Arg
XM_011519956.1:c.561C>A XP_011518258.1:p.Ser187Arg
XM_011519957.1:c.561C>A XP_011518259.1:p.Ser187Arg
XM_011519956.2:c.561C>A XP_011518258.1:p.Ser187Arg
XM_011519957.2:c.561C>A XP_011518259.1:p.Ser187Arg
XM_017017428.1:c.561C>A XP_016872917.1:p.Ser187Arg
XM_017017429.1:c.561C>A XP_016872918.1:p.Ser187Arg
XM_017017430.2:c.561C>A XP_016872919.1:p.Ser187Arg
XM_017017431.1:c.561C>A XP_016872920.1:p.Ser187Arg
XM_024448410.1:c.561C>A XP_024304178.1:p.Ser187Arg
XR_001747817.1:n.1110C>A
NM_012239.6:c.987C>A MANE Select NP_036371.1:p.Ser329Arg
NM_001370310.1:c.987C>A NP_001357239.1:p.Ser329Arg
NM_001370312.1:c.795C>A NP_001357241.1:p.Ser265Arg
NM_001370314.1:c.825C>A NP_001357243.1:p.Ser275Arg
NM_001370315.1:c.744C>A NP_001357244.1:p.Ser248Arg
NM_001370316.1:c.315C>A NP_001357245.1:p.Ser105Arg
NM_001370317.1:c.171C>A NP_001357246.1:p.Ser57Arg
NM_001370318.1:c.561C>A NP_001357247.1:p.Ser187Arg
NM_001370319.1:c.561C>A NP_001357248.1:p.Ser187Arg
NM_001370320.1:c.561C>A NP_001357249.1:p.Ser187Arg
NM_001370321.1:c.561C>A NP_001357250.1:p.Ser187Arg
NM_001370322.1:c.561C>A NP_001357251.1:p.Ser187Arg
NM_001370323.1:c.561C>A NP_001357252.1:p.Ser187Arg
NM_001370324.1:c.544-2306C>A NP_001357253.1:n.544-2306C>A
NM_001370325.1:c.544-2306C>A NP_001357254.1:n.544-2306C>A
NR_163386.1:n.1176C>A
NR_163387.1:n.1063C>A
NR_163388.1:n.1111C>A
NR_163389.1:n.1431C>A
NR_163390.1:n.1111C>A
NR_163391.1:n.1318C>A
NR_163392.1:n.1520C>A
NR_163393.1:n.1585C>A
NR_163394.1:n.1009C>A
NR_163395.1:n.1264C>A
NR_163396.1:n.1090C>A
NR_163397.1:n.896C>A
NR_163398.1:n.1009C>A
NR_163399.1:n.1410C>A
NR_163400.1:n.944C>A
NR_163401.1:n.1499C>A
NR_163402.1:n.1560C>A
NM_001017524.3:c.561C>A NP_001017524.1:p.Ser187Arg