Canonical Allele Identifier: CA378857855

Gene: SIRT3

Linked Data

• ClinVar Variation Id: 2359125
• ClinVar RCV Id: RCV004200838
• gnomAD v4: 11-219017-C-T
• MyVariant Identifiers: chr11:g.219017C>T (hg19) ; chr11:g.219017C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382743.9:c.994G>A MANE Select	ENSP00000372191.4:p.Glu332Lys
ENST00000382743.8:c.994G>A	ENSP00000372191.4:p.Glu332Lys
ENST00000524564.5:c.802G>A	ENSP00000432937.1:p.Glu268Lys
ENST00000525319.5:c.751G>A	ENSP00000435464.1:p.Glu251Lys
ENST00000529382.5:c.568G>A	ENSP00000437216.1:p.Glu190Lys
ENST00000529937.1:c.*1400G>A	ENSP00000434747.1:n.*1400G>A
ENST00000532837.5:c.*707G>A	ENSP00000433899.1:n.*707G>A
ENST00000532956.5:c.832G>A	ENSP00000433077.1:p.Glu278Lys
NM_001017524.2:c.568G>A	NP_001017524.1:p.Glu190Lys
NM_012239.5:c.994G>A	NP_036371.1:p.Glu332Lys
XM_005252835.1:c.994G>A	XP_005252892.1:p.Glu332Lys
XM_011519956.1:c.568G>A	XP_011518258.1:p.Glu190Lys
XM_011519957.1:c.568G>A	XP_011518259.1:p.Glu190Lys
XM_011519956.2:c.568G>A	XP_011518258.1:p.Glu190Lys
XM_011519957.2:c.568G>A	XP_011518259.1:p.Glu190Lys
XM_017017428.1:c.568G>A	XP_016872917.1:p.Glu190Lys
XM_017017429.1:c.568G>A	XP_016872918.1:p.Glu190Lys
XM_017017430.2:c.568G>A	XP_016872919.1:p.Glu190Lys
XM_017017431.1:c.568G>A	XP_016872920.1:p.Glu190Lys
XM_024448410.1:c.568G>A	XP_024304178.1:p.Glu190Lys
XR_001747817.1:n.1117G>A
NM_012239.6:c.994G>A MANE Select	NP_036371.1:p.Glu332Lys
NM_001370310.1:c.994G>A	NP_001357239.1:p.Glu332Lys
NM_001370312.1:c.802G>A	NP_001357241.1:p.Glu268Lys
NM_001370314.1:c.832G>A	NP_001357243.1:p.Glu278Lys
NM_001370315.1:c.751G>A	NP_001357244.1:p.Glu251Lys
NM_001370316.1:c.322G>A	NP_001357245.1:p.Glu108Lys
NM_001370317.1:c.178G>A	NP_001357246.1:p.Glu60Lys
NM_001370318.1:c.568G>A	NP_001357247.1:p.Glu190Lys
NM_001370319.1:c.568G>A	NP_001357248.1:p.Glu190Lys
NM_001370320.1:c.568G>A	NP_001357249.1:p.Glu190Lys
NM_001370321.1:c.568G>A	NP_001357250.1:p.Glu190Lys
NM_001370322.1:c.568G>A	NP_001357251.1:p.Glu190Lys
NM_001370323.1:c.568G>A	NP_001357252.1:p.Glu190Lys
NM_001370324.1:c.544-2299G>A	NP_001357253.1:n.544-2299G>A
NM_001370325.1:c.544-2299G>A	NP_001357254.1:n.544-2299G>A
NR_163386.1:n.1183G>A
NR_163387.1:n.1070G>A
NR_163388.1:n.1118G>A
NR_163389.1:n.1438G>A
NR_163390.1:n.1118G>A
NR_163391.1:n.1325G>A
NR_163392.1:n.1527G>A
NR_163393.1:n.1592G>A
NR_163394.1:n.1016G>A
NR_163395.1:n.1271G>A
NR_163396.1:n.1097G>A
NR_163397.1:n.903G>A
NR_163398.1:n.1016G>A
NR_163399.1:n.1417G>A
NR_163400.1:n.951G>A
NR_163401.1:n.1506G>A
NR_163402.1:n.1567G>A
NM_001017524.3:c.568G>A	NP_001017524.1:p.Glu190Lys