Canonical Allele Identifier: CA351693902
Gene: SETD5 HGNC NCBI

Linked Data

dbSNP Id: rs1456304736
gnomAD v3: 3-9475804-A-G
gnomAD v4: 3-9475804-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475804A>G , CM000665.2:g.9475804A>G GRCh38
NC_000003.11:g.9517488A>G , CM000665.1:g.9517488A>G GRCh37
NC_000003.10:g.9492488A>G NCBI36
NG_034132.1:g.83105A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682236.1:n.2997A>G
ENST00000682536.1:c.4138A>G ENSP00000507956.1:p.Thr1380Ala
ENST00000687014.1:n.5031A>G
ENST00000689167.1:n.2422A>G
ENST00000693430.1:n.6284A>G
ENST00000402198.7:c.4042A>G MANE Select ENSP00000385852.2:p.Thr1348Ala
ENST00000663774.1:c.*4188A>G ENSP00000499452.1:n.*4188A>G
ENST00000665872.1:c.*4111A>G ENSP00000499600.1:n.*4111A>G
ENST00000666307.1:c.*4416A>G ENSP00000499402.1:n.*4416A>G
ENST00000670063.1:c.*4147A>G ENSP00000499725.1:n.*4147A>G
ENST00000302463.10:c.3748A>G ENSP00000302028.6:p.Thr1250Ala
ENST00000399686.6:c.2722+648A>G
ENST00000402198.5:c.4042A>G ENSP00000385852.1:p.Thr1348Ala
ENST00000406341.5:c.4042A>G ENSP00000383939.1:p.Thr1348Ala
ENST00000407969.5:c.4099A>G ENSP00000384114.1:p.Thr1367Ala
ENST00000413704.5:c.3078A>G
ENST00000466242.5:n.3383A>G
ENST00000493918.5:n.4206A>G
NM_001080517.2:c.4042A>G NP_001073986.1:p.Thr1348Ala
NM_001292043.1:c.3748A>G NP_001278972.1:p.Thr1250Ala
XM_005265301.1:c.4099A>G XP_005265358.1:p.Thr1367Ala
XM_005265303.1:c.4042A>G XP_005265360.1:p.Thr1348Ala
XM_011533920.1:c.4216A>G XP_011532222.1:p.Thr1406Ala
XM_011533921.1:c.4216A>G XP_011532223.1:p.Thr1406Ala
XM_011533922.1:c.4195A>G XP_011532224.1:p.Thr1399Ala
XM_011533923.1:c.4195A>G XP_011532225.1:p.Thr1399Ala
XM_011533924.1:c.4195A>G XP_011532226.1:p.Thr1399Ala
XM_011533925.1:c.4177A>G XP_011532227.1:p.Thr1393Ala
XM_011533926.1:c.4159A>G XP_011532228.1:p.Thr1387Ala
XM_011533927.1:c.4159A>G XP_011532229.1:p.Thr1387Ala
XM_011533928.1:c.4138A>G XP_011532230.1:p.Thr1380Ala
XM_011533929.1:c.4120A>G XP_011532231.1:p.Thr1374Ala
XM_011533930.1:c.4081A>G XP_011532232.1:p.Thr1361Ala
XM_011533931.1:c.3805A>G XP_011532233.1:p.Thr1269Ala
XM_011533932.1:c.3766A>G XP_011532234.1:p.Thr1256Ala
XM_011533933.1:c.3766A>G XP_011532235.1:p.Thr1256Ala
NM_001349451.1:c.3748A>G NP_001336380.1:p.Thr1250Ala
XM_011533921.2:c.4216A>G XP_011532223.1:p.Thr1406Ala
XM_017006767.1:c.4216A>G XP_016862256.1:p.Thr1406Ala
XM_017006768.2:c.4195A>G XP_016862257.1:p.Thr1399Ala
XM_017006770.1:c.4159A>G XP_016862259.1:p.Thr1387Ala
XM_017006771.1:c.4156A>G XP_016862260.1:p.Thr1386Ala
XM_017006772.1:c.4120A>G XP_016862261.1:p.Thr1374Ala
XM_017006773.1:c.4120A>G XP_016862262.1:p.Thr1374Ala
XM_017006774.1:c.4099A>G XP_016862263.1:p.Thr1367Ala
XM_017006775.1:c.4063A>G XP_016862264.1:p.Thr1355Ala
XM_017006776.1:c.3805A>G XP_016862265.1:p.Thr1269Ala
XM_017006777.1:c.3805A>G XP_016862266.1:p.Thr1269Ala
XM_017006778.1:c.3805A>G XP_016862267.1:p.Thr1269Ala
XM_017006779.1:c.3766A>G XP_016862268.1:p.Thr1256Ala
XM_017006780.1:c.3766A>G XP_016862269.1:p.Thr1256Ala
XM_017006783.1:c.3538A>G XP_016862272.1:p.Thr1180Ala
XM_024453620.1:c.4177A>G XP_024309388.1:p.Thr1393Ala
XM_024453621.1:c.3853A>G XP_024309389.1:p.Thr1285Ala
XR_001740195.2:n.8425A>G
NM_001080517.3:c.4042A>G MANE Select NP_001073986.1:p.Thr1348Ala
NM_001292043.2:c.3748A>G NP_001278972.1:p.Thr1250Ala
NM_001349451.2:c.3748A>G NP_001336380.1:p.Thr1250Ala