Canonical Allele Identifier: CA5770932
Gene: SIRT3 HGNC NCBI

Linked Data

dbSNP Id: rs201620500
gnomAD v2: 11-219018-G-A
gnomAD v3: 11-219018-G-A
gnomAD v4: 11-219018-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.219018G>A , CM000673.2:g.219018G>A GRCh38
NC_000011.9:g.219018G>A , CM000673.1:g.219018G>A GRCh37
NC_000011.8:g.209018G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382743.9:c.993C>T MANE Select ENSP00000372191.4:p.Thr331=
ENST00000382743.8:c.993C>T ENSP00000372191.4:p.Thr331=
ENST00000524564.5:c.801C>T ENSP00000432937.1:p.Thr267=
ENST00000525319.5:c.750C>T ENSP00000435464.1:p.Thr250=
ENST00000529382.5:c.567C>T ENSP00000437216.1:p.Thr189=
ENST00000529937.1:c.*1399C>T ENSP00000434747.1:n.*1399C>T
ENST00000532837.5:c.*706C>T ENSP00000433899.1:n.*706C>T
ENST00000532956.5:c.831C>T ENSP00000433077.1:p.Thr277=
NM_001017524.2:c.567C>T NP_001017524.1:p.Thr189=
NM_012239.5:c.993C>T NP_036371.1:p.Thr331=
XM_005252835.1:c.993C>T XP_005252892.1:p.Thr331=
XM_011519956.1:c.567C>T XP_011518258.1:p.Thr189=
XM_011519957.1:c.567C>T XP_011518259.1:p.Thr189=
XM_011519956.2:c.567C>T XP_011518258.1:p.Thr189=
XM_011519957.2:c.567C>T XP_011518259.1:p.Thr189=
XM_017017428.1:c.567C>T XP_016872917.1:p.Thr189=
XM_017017429.1:c.567C>T XP_016872918.1:p.Thr189=
XM_017017430.2:c.567C>T XP_016872919.1:p.Thr189=
XM_017017431.1:c.567C>T XP_016872920.1:p.Thr189=
XM_024448410.1:c.567C>T XP_024304178.1:p.Thr189=
XR_001747817.1:n.1116C>T
NM_012239.6:c.993C>T MANE Select NP_036371.1:p.Thr331=
NM_001370310.1:c.993C>T NP_001357239.1:p.Thr331=
NM_001370312.1:c.801C>T NP_001357241.1:p.Thr267=
NM_001370314.1:c.831C>T NP_001357243.1:p.Thr277=
NM_001370315.1:c.750C>T NP_001357244.1:p.Thr250=
NM_001370316.1:c.321C>T NP_001357245.1:p.Thr107=
NM_001370317.1:c.177C>T NP_001357246.1:p.Thr59=
NM_001370318.1:c.567C>T NP_001357247.1:p.Thr189=
NM_001370319.1:c.567C>T NP_001357248.1:p.Thr189=
NM_001370320.1:c.567C>T NP_001357249.1:p.Thr189=
NM_001370321.1:c.567C>T NP_001357250.1:p.Thr189=
NM_001370322.1:c.567C>T NP_001357251.1:p.Thr189=
NM_001370323.1:c.567C>T NP_001357252.1:p.Thr189=
NM_001370324.1:c.544-2300C>T NP_001357253.1:n.544-2300C>T
NM_001370325.1:c.544-2300C>T NP_001357254.1:n.544-2300C>T
NR_163386.1:n.1182C>T
NR_163387.1:n.1069C>T
NR_163388.1:n.1117C>T
NR_163389.1:n.1437C>T
NR_163390.1:n.1117C>T
NR_163391.1:n.1324C>T
NR_163392.1:n.1526C>T
NR_163393.1:n.1591C>T
NR_163394.1:n.1015C>T
NR_163395.1:n.1270C>T
NR_163396.1:n.1096C>T
NR_163397.1:n.902C>T
NR_163398.1:n.1015C>T
NR_163399.1:n.1416C>T
NR_163400.1:n.950C>T
NR_163401.1:n.1505C>T
NR_163402.1:n.1566C>T
NM_001017524.3:c.567C>T NP_001017524.1:p.Thr189=