Canonical Allele Identifier: CA378857881

Gene: SIRT3

Linked Data

• dbSNP Id: rs1467625159
• gnomAD v2: 11-219030-A-C
• gnomAD v4: 11-219030-A-C
• MyVariant Identifiers: chr11:g.219030A>C (hg19) ; chr11:g.219030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.219030A>C , CM000673.2:g.219030A>C	GRCh38
NC_000011.9:g.219030A>C , CM000673.1:g.219030A>C	GRCh37
NC_000011.8:g.209030A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382743.9:c.981T>G MANE Select	ENSP00000372191.4:p.Phe327Leu
ENST00000382743.8:c.981T>G	ENSP00000372191.4:p.Phe327Leu
ENST00000524564.5:c.789T>G	ENSP00000432937.1:p.Phe263Leu
ENST00000525319.5:c.738T>G	ENSP00000435464.1:p.Phe246Leu
ENST00000529382.5:c.555T>G	ENSP00000437216.1:p.Phe185Leu
ENST00000529937.1:c.*1387T>G	ENSP00000434747.1:n.*1387T>G
ENST00000532837.5:c.*694T>G	ENSP00000433899.1:n.*694T>G
ENST00000532956.5:c.819T>G	ENSP00000433077.1:p.Phe273Leu
NM_001017524.2:c.555T>G	NP_001017524.1:p.Phe185Leu
NM_012239.5:c.981T>G	NP_036371.1:p.Phe327Leu
XM_005252835.1:c.981T>G	XP_005252892.1:p.Phe327Leu
XM_011519956.1:c.555T>G	XP_011518258.1:p.Phe185Leu
XM_011519957.1:c.555T>G	XP_011518259.1:p.Phe185Leu
XM_011519956.2:c.555T>G	XP_011518258.1:p.Phe185Leu
XM_011519957.2:c.555T>G	XP_011518259.1:p.Phe185Leu
XM_017017428.1:c.555T>G	XP_016872917.1:p.Phe185Leu
XM_017017429.1:c.555T>G	XP_016872918.1:p.Phe185Leu
XM_017017430.2:c.555T>G	XP_016872919.1:p.Phe185Leu
XM_017017431.1:c.555T>G	XP_016872920.1:p.Phe185Leu
XM_024448410.1:c.555T>G	XP_024304178.1:p.Phe185Leu
XR_001747817.1:n.1104T>G
NM_012239.6:c.981T>G MANE Select	NP_036371.1:p.Phe327Leu
NM_001370310.1:c.981T>G	NP_001357239.1:p.Phe327Leu
NM_001370312.1:c.789T>G	NP_001357241.1:p.Phe263Leu
NM_001370314.1:c.819T>G	NP_001357243.1:p.Phe273Leu
NM_001370315.1:c.738T>G	NP_001357244.1:p.Phe246Leu
NM_001370316.1:c.309T>G	NP_001357245.1:p.Phe103Leu
NM_001370317.1:c.165T>G	NP_001357246.1:p.Phe55Leu
NM_001370318.1:c.555T>G	NP_001357247.1:p.Phe185Leu
NM_001370319.1:c.555T>G	NP_001357248.1:p.Phe185Leu
NM_001370320.1:c.555T>G	NP_001357249.1:p.Phe185Leu
NM_001370321.1:c.555T>G	NP_001357250.1:p.Phe185Leu
NM_001370322.1:c.555T>G	NP_001357251.1:p.Phe185Leu
NM_001370323.1:c.555T>G	NP_001357252.1:p.Phe185Leu
NM_001370324.1:c.544-2312T>G	NP_001357253.1:n.544-2312T>G
NM_001370325.1:c.544-2312T>G	NP_001357254.1:n.544-2312T>G
NR_163386.1:n.1170T>G
NR_163387.1:n.1057T>G
NR_163388.1:n.1105T>G
NR_163389.1:n.1425T>G
NR_163390.1:n.1105T>G
NR_163391.1:n.1312T>G
NR_163392.1:n.1514T>G
NR_163393.1:n.1579T>G
NR_163394.1:n.1003T>G
NR_163395.1:n.1258T>G
NR_163396.1:n.1084T>G
NR_163397.1:n.890T>G
NR_163398.1:n.1003T>G
NR_163399.1:n.1404T>G
NR_163400.1:n.938T>G
NR_163401.1:n.1493T>G
NR_163402.1:n.1554T>G
NM_001017524.3:c.555T>G	NP_001017524.1:p.Phe185Leu