Canonical Allele Identifier: CA5770920

Gene: SIRT3

Linked Data

• dbSNP Id: rs778916219
• ExAC: 11:218992 C / T
• gnomAD v2: 11-218992-C-T
• gnomAD v4: 11-218992-C-T
• MyVariant Identifiers: chr11:g.218992C>T (hg19) ; chr11:g.218992C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382743.9:c.1019G>A MANE Select	ENSP00000372191.4:p.Arg340Gln
ENST00000382743.8:c.1019G>A	ENSP00000372191.4:p.Arg340Gln
ENST00000524564.5:c.827G>A	ENSP00000432937.1:p.Arg276Gln
ENST00000525319.5:c.776G>A	ENSP00000435464.1:p.Arg259Gln
ENST00000529382.5:c.593G>A	ENSP00000437216.1:p.Arg198Gln
ENST00000529937.1:c.*1425G>A	ENSP00000434747.1:n.*1425G>A
ENST00000532837.5:c.*732G>A	ENSP00000433899.1:n.*732G>A
ENST00000532956.5:c.857G>A	ENSP00000433077.1:p.Arg286Gln
NM_001017524.2:c.593G>A	NP_001017524.1:p.Arg198Gln
NM_012239.5:c.1019G>A	NP_036371.1:p.Arg340Gln
XM_005252835.1:c.1019G>A	XP_005252892.1:p.Arg340Gln
XM_011519956.1:c.593G>A	XP_011518258.1:p.Arg198Gln
XM_011519957.1:c.593G>A	XP_011518259.1:p.Arg198Gln
XM_011519956.2:c.593G>A	XP_011518258.1:p.Arg198Gln
XM_011519957.2:c.593G>A	XP_011518259.1:p.Arg198Gln
XM_017017428.1:c.593G>A	XP_016872917.1:p.Arg198Gln
XM_017017429.1:c.593G>A	XP_016872918.1:p.Arg198Gln
XM_017017430.2:c.593G>A	XP_016872919.1:p.Arg198Gln
XM_017017431.1:c.593G>A	XP_016872920.1:p.Arg198Gln
XM_024448410.1:c.593G>A	XP_024304178.1:p.Arg198Gln
XR_001747817.1:n.1142G>A
NM_012239.6:c.1019G>A MANE Select	NP_036371.1:p.Arg340Gln
NM_001370310.1:c.1019G>A	NP_001357239.1:p.Arg340Gln
NM_001370312.1:c.827G>A	NP_001357241.1:p.Arg276Gln
NM_001370314.1:c.857G>A	NP_001357243.1:p.Arg286Gln
NM_001370315.1:c.776G>A	NP_001357244.1:p.Arg259Gln
NM_001370316.1:c.347G>A	NP_001357245.1:p.Arg116Gln
NM_001370317.1:c.203G>A	NP_001357246.1:p.Arg68Gln
NM_001370318.1:c.593G>A	NP_001357247.1:p.Arg198Gln
NM_001370319.1:c.593G>A	NP_001357248.1:p.Arg198Gln
NM_001370320.1:c.593G>A	NP_001357249.1:p.Arg198Gln
NM_001370321.1:c.593G>A	NP_001357250.1:p.Arg198Gln
NM_001370322.1:c.593G>A	NP_001357251.1:p.Arg198Gln
NM_001370323.1:c.593G>A	NP_001357252.1:p.Arg198Gln
NM_001370324.1:c.544-2274G>A	NP_001357253.1:n.544-2274G>A
NM_001370325.1:c.544-2274G>A	NP_001357254.1:n.544-2274G>A
NR_163386.1:n.1208G>A
NR_163387.1:n.1095G>A
NR_163388.1:n.1143G>A
NR_163389.1:n.1463G>A
NR_163390.1:n.1143G>A
NR_163391.1:n.1350G>A
NR_163392.1:n.1552G>A
NR_163393.1:n.1617G>A
NR_163394.1:n.1041G>A
NR_163395.1:n.1296G>A
NR_163396.1:n.1122G>A
NR_163397.1:n.928G>A
NR_163398.1:n.1041G>A
NR_163399.1:n.1442G>A
NR_163400.1:n.976G>A
NR_163401.1:n.1531G>A
NR_163402.1:n.1592G>A
NM_001017524.3:c.593G>A	NP_001017524.1:p.Arg198Gln