Canonical Allele Identifier: CA5770931

Gene: SIRT3

Linked Data

• dbSNP Id: rs762570417
• ExAC: 11:219017 C / G
• gnomAD v2: 11-219017-C-G
• gnomAD v3: 11-219017-C-G
• gnomAD v4: 11-219017-C-G
• MyVariant Identifiers: chr11:g.219017C>G (hg19) ; chr11:g.219017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.219017C>G , CM000673.2:g.219017C>G	GRCh38
NC_000011.9:g.219017C>G , CM000673.1:g.219017C>G	GRCh37
NC_000011.8:g.209017C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382743.9:c.994G>C MANE Select	ENSP00000372191.4:p.Glu332Gln
ENST00000382743.8:c.994G>C	ENSP00000372191.4:p.Glu332Gln
ENST00000524564.5:c.802G>C	ENSP00000432937.1:p.Glu268Gln
ENST00000525319.5:c.751G>C	ENSP00000435464.1:p.Glu251Gln
ENST00000529382.5:c.568G>C	ENSP00000437216.1:p.Glu190Gln
ENST00000529937.1:c.*1400G>C	ENSP00000434747.1:n.*1400G>C
ENST00000532837.5:c.*707G>C	ENSP00000433899.1:n.*707G>C
ENST00000532956.5:c.832G>C	ENSP00000433077.1:p.Glu278Gln
NM_001017524.2:c.568G>C	NP_001017524.1:p.Glu190Gln
NM_012239.5:c.994G>C	NP_036371.1:p.Glu332Gln
XM_005252835.1:c.994G>C	XP_005252892.1:p.Glu332Gln
XM_011519956.1:c.568G>C	XP_011518258.1:p.Glu190Gln
XM_011519957.1:c.568G>C	XP_011518259.1:p.Glu190Gln
XM_011519956.2:c.568G>C	XP_011518258.1:p.Glu190Gln
XM_011519957.2:c.568G>C	XP_011518259.1:p.Glu190Gln
XM_017017428.1:c.568G>C	XP_016872917.1:p.Glu190Gln
XM_017017429.1:c.568G>C	XP_016872918.1:p.Glu190Gln
XM_017017430.2:c.568G>C	XP_016872919.1:p.Glu190Gln
XM_017017431.1:c.568G>C	XP_016872920.1:p.Glu190Gln
XM_024448410.1:c.568G>C	XP_024304178.1:p.Glu190Gln
XR_001747817.1:n.1117G>C
NM_012239.6:c.994G>C MANE Select	NP_036371.1:p.Glu332Gln
NM_001370310.1:c.994G>C	NP_001357239.1:p.Glu332Gln
NM_001370312.1:c.802G>C	NP_001357241.1:p.Glu268Gln
NM_001370314.1:c.832G>C	NP_001357243.1:p.Glu278Gln
NM_001370315.1:c.751G>C	NP_001357244.1:p.Glu251Gln
NM_001370316.1:c.322G>C	NP_001357245.1:p.Glu108Gln
NM_001370317.1:c.178G>C	NP_001357246.1:p.Glu60Gln
NM_001370318.1:c.568G>C	NP_001357247.1:p.Glu190Gln
NM_001370319.1:c.568G>C	NP_001357248.1:p.Glu190Gln
NM_001370320.1:c.568G>C	NP_001357249.1:p.Glu190Gln
NM_001370321.1:c.568G>C	NP_001357250.1:p.Glu190Gln
NM_001370322.1:c.568G>C	NP_001357251.1:p.Glu190Gln
NM_001370323.1:c.568G>C	NP_001357252.1:p.Glu190Gln
NM_001370324.1:c.544-2299G>C	NP_001357253.1:n.544-2299G>C
NM_001370325.1:c.544-2299G>C	NP_001357254.1:n.544-2299G>C
NR_163386.1:n.1183G>C
NR_163387.1:n.1070G>C
NR_163388.1:n.1118G>C
NR_163389.1:n.1438G>C
NR_163390.1:n.1118G>C
NR_163391.1:n.1325G>C
NR_163392.1:n.1527G>C
NR_163393.1:n.1592G>C
NR_163394.1:n.1016G>C
NR_163395.1:n.1271G>C
NR_163396.1:n.1097G>C
NR_163397.1:n.903G>C
NR_163398.1:n.1016G>C
NR_163399.1:n.1417G>C
NR_163400.1:n.951G>C
NR_163401.1:n.1506G>C
NR_163402.1:n.1567G>C
NM_001017524.3:c.568G>C	NP_001017524.1:p.Glu190Gln