Canonical Allele Identifier: CA5770935

Gene: SIRT3

Linked Data

• dbSNP Id: rs750208270
• ExAC: 11:219035 G / C
• gnomAD v2: 11-219035-G-C
• gnomAD v3: 11-219035-G-C
• gnomAD v4: 11-219035-G-C
• MyVariant Identifiers: chr11:g.219035G>C (hg19) ; chr11:g.219035G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.219035G>C , CM000673.2:g.219035G>C	GRCh38
NC_000011.9:g.219035G>C , CM000673.1:g.219035G>C	GRCh37
NC_000011.8:g.209035G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382743.9:c.976C>G MANE Select	ENSP00000372191.4:p.Pro326Ala
ENST00000382743.8:c.976C>G	ENSP00000372191.4:p.Pro326Ala
ENST00000524564.5:c.784C>G	ENSP00000432937.1:p.Pro262Ala
ENST00000525319.5:c.733C>G	ENSP00000435464.1:p.Pro245Ala
ENST00000529382.5:c.550C>G	ENSP00000437216.1:p.Pro184Ala
ENST00000529937.1:c.*1382C>G	ENSP00000434747.1:n.*1382C>G
ENST00000532837.5:c.*689C>G	ENSP00000433899.1:n.*689C>G
ENST00000532956.5:c.814C>G	ENSP00000433077.1:p.Pro272Ala
NM_001017524.2:c.550C>G	NP_001017524.1:p.Pro184Ala
NM_012239.5:c.976C>G	NP_036371.1:p.Pro326Ala
XM_005252835.1:c.976C>G	XP_005252892.1:p.Pro326Ala
XM_011519956.1:c.550C>G	XP_011518258.1:p.Pro184Ala
XM_011519957.1:c.550C>G	XP_011518259.1:p.Pro184Ala
XM_011519956.2:c.550C>G	XP_011518258.1:p.Pro184Ala
XM_011519957.2:c.550C>G	XP_011518259.1:p.Pro184Ala
XM_017017428.1:c.550C>G	XP_016872917.1:p.Pro184Ala
XM_017017429.1:c.550C>G	XP_016872918.1:p.Pro184Ala
XM_017017430.2:c.550C>G	XP_016872919.1:p.Pro184Ala
XM_017017431.1:c.550C>G	XP_016872920.1:p.Pro184Ala
XM_024448410.1:c.550C>G	XP_024304178.1:p.Pro184Ala
XR_001747817.1:n.1099C>G
NM_012239.6:c.976C>G MANE Select	NP_036371.1:p.Pro326Ala
NM_001370310.1:c.976C>G	NP_001357239.1:p.Pro326Ala
NM_001370312.1:c.784C>G	NP_001357241.1:p.Pro262Ala
NM_001370314.1:c.814C>G	NP_001357243.1:p.Pro272Ala
NM_001370315.1:c.733C>G	NP_001357244.1:p.Pro245Ala
NM_001370316.1:c.304C>G	NP_001357245.1:p.Pro102Ala
NM_001370317.1:c.160C>G	NP_001357246.1:p.Pro54Ala
NM_001370318.1:c.550C>G	NP_001357247.1:p.Pro184Ala
NM_001370319.1:c.550C>G	NP_001357248.1:p.Pro184Ala
NM_001370320.1:c.550C>G	NP_001357249.1:p.Pro184Ala
NM_001370321.1:c.550C>G	NP_001357250.1:p.Pro184Ala
NM_001370322.1:c.550C>G	NP_001357251.1:p.Pro184Ala
NM_001370323.1:c.550C>G	NP_001357252.1:p.Pro184Ala
NM_001370324.1:c.544-2317C>G	NP_001357253.1:n.544-2317C>G
NM_001370325.1:c.544-2317C>G	NP_001357254.1:n.544-2317C>G
NR_163386.1:n.1165C>G
NR_163387.1:n.1052C>G
NR_163388.1:n.1100C>G
NR_163389.1:n.1420C>G
NR_163390.1:n.1100C>G
NR_163391.1:n.1307C>G
NR_163392.1:n.1509C>G
NR_163393.1:n.1574C>G
NR_163394.1:n.998C>G
NR_163395.1:n.1253C>G
NR_163396.1:n.1079C>G
NR_163397.1:n.885C>G
NR_163398.1:n.998C>G
NR_163399.1:n.1399C>G
NR_163400.1:n.933C>G
NR_163401.1:n.1488C>G
NR_163402.1:n.1549C>G
NM_001017524.3:c.550C>G	NP_001017524.1:p.Pro184Ala