Canonical Allele Identifier: CA351692663

Gene: SETD5

Linked Data

• dbSNP Id: rs2045786453
• gnomAD v3: 3-9475688-A-G
• gnomAD v4: 3-9475688-A-G
• MyVariant Identifiers: chr3:g.9517372A>G (hg19) ; chr3:g.9475688A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475688A>G , CM000665.2:g.9475688A>G	GRCh38
NC_000003.11:g.9517372A>G , CM000665.1:g.9517372A>G	GRCh37
NC_000003.10:g.9492372A>G	NCBI36
NG_034132.1:g.82989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2881A>G
ENST00000682536.1:c.4022A>G	ENSP00000507956.1:p.Asp1341Gly
ENST00000687014.1:n.4915A>G
ENST00000689167.1:n.2306A>G
ENST00000693430.1:n.6168A>G
ENST00000402198.7:c.3926A>G MANE Select	ENSP00000385852.2:p.Asp1309Gly
ENST00000663774.1:c.*4072A>G	ENSP00000499452.1:n.*4072A>G
ENST00000665872.1:c.*3995A>G	ENSP00000499600.1:n.*3995A>G
ENST00000666307.1:c.*4300A>G	ENSP00000499402.1:n.*4300A>G
ENST00000670063.1:c.*4031A>G	ENSP00000499725.1:n.*4031A>G
ENST00000302463.10:c.3632A>G	ENSP00000302028.6:p.Asp1211Gly
ENST00000399686.6:c.2722+532A>G
ENST00000402198.5:c.3926A>G	ENSP00000385852.1:p.Asp1309Gly
ENST00000406341.5:c.3926A>G	ENSP00000383939.1:p.Asp1309Gly
ENST00000407969.5:c.3983A>G	ENSP00000384114.1:p.Asp1328Gly
ENST00000413704.5:c.2962A>G
ENST00000459941.1:n.1057A>G
ENST00000466242.5:n.3267A>G
ENST00000493918.5:n.4090A>G
NM_001080517.2:c.3926A>G	NP_001073986.1:p.Asp1309Gly
NM_001292043.1:c.3632A>G	NP_001278972.1:p.Asp1211Gly
XM_005265301.1:c.3983A>G	XP_005265358.1:p.Asp1328Gly
XM_005265303.1:c.3926A>G	XP_005265360.1:p.Asp1309Gly
XM_011533920.1:c.4100A>G	XP_011532222.1:p.Asp1367Gly
XM_011533921.1:c.4100A>G	XP_011532223.1:p.Asp1367Gly
XM_011533922.1:c.4079A>G	XP_011532224.1:p.Asp1360Gly
XM_011533923.1:c.4079A>G	XP_011532225.1:p.Asp1360Gly
XM_011533924.1:c.4079A>G	XP_011532226.1:p.Asp1360Gly
XM_011533925.1:c.4061A>G	XP_011532227.1:p.Asp1354Gly
XM_011533926.1:c.4043A>G	XP_011532228.1:p.Asp1348Gly
XM_011533927.1:c.4043A>G	XP_011532229.1:p.Asp1348Gly
XM_011533928.1:c.4022A>G	XP_011532230.1:p.Asp1341Gly
XM_011533929.1:c.4004A>G	XP_011532231.1:p.Asp1335Gly
XM_011533930.1:c.3965A>G	XP_011532232.1:p.Asp1322Gly
XM_011533931.1:c.3689A>G	XP_011532233.1:p.Asp1230Gly
XM_011533932.1:c.3650A>G	XP_011532234.1:p.Asp1217Gly
XM_011533933.1:c.3650A>G	XP_011532235.1:p.Asp1217Gly
NM_001349451.1:c.3632A>G	NP_001336380.1:p.Asp1211Gly
XM_011533921.2:c.4100A>G	XP_011532223.1:p.Asp1367Gly
XM_017006767.1:c.4100A>G	XP_016862256.1:p.Asp1367Gly
XM_017006768.2:c.4079A>G	XP_016862257.1:p.Asp1360Gly
XM_017006770.1:c.4043A>G	XP_016862259.1:p.Asp1348Gly
XM_017006771.1:c.4040A>G	XP_016862260.1:p.Asp1347Gly
XM_017006772.1:c.4004A>G	XP_016862261.1:p.Asp1335Gly
XM_017006773.1:c.4004A>G	XP_016862262.1:p.Asp1335Gly
XM_017006774.1:c.3983A>G	XP_016862263.1:p.Asp1328Gly
XM_017006775.1:c.3947A>G	XP_016862264.1:p.Asp1316Gly
XM_017006776.1:c.3689A>G	XP_016862265.1:p.Asp1230Gly
XM_017006777.1:c.3689A>G	XP_016862266.1:p.Asp1230Gly
XM_017006778.1:c.3689A>G	XP_016862267.1:p.Asp1230Gly
XM_017006779.1:c.3650A>G	XP_016862268.1:p.Asp1217Gly
XM_017006780.1:c.3650A>G	XP_016862269.1:p.Asp1217Gly
XM_017006783.1:c.3422A>G	XP_016862272.1:p.Asp1141Gly
XM_024453620.1:c.4061A>G	XP_024309388.1:p.Asp1354Gly
XM_024453621.1:c.3737A>G	XP_024309389.1:p.Asp1246Gly
XR_001740195.2:n.8309A>G
NM_001080517.3:c.3926A>G MANE Select	NP_001073986.1:p.Asp1309Gly
NM_001292043.2:c.3632A>G	NP_001278972.1:p.Asp1211Gly
NM_001349451.2:c.3632A>G	NP_001336380.1:p.Asp1211Gly