Canonical Allele Identifier: CA351691969
Gene: SETD5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475642C>A , CM000665.2:g.9475642C>A GRCh38
NC_000003.11:g.9517326C>A , CM000665.1:g.9517326C>A GRCh37
NC_000003.10:g.9492326C>A NCBI36
NG_034132.1:g.82943C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682236.1:n.2835C>A
ENST00000682536.1:c.3976C>A ENSP00000507956.1:p.Leu1326Ile
ENST00000687014.1:n.4869C>A
ENST00000689167.1:n.2260C>A
ENST00000691925.1:n.6677C>A
ENST00000693430.1:n.6122C>A
ENST00000402198.7:c.3880C>A MANE Select ENSP00000385852.2:p.Leu1294Ile
ENST00000663774.1:c.*4026C>A ENSP00000499452.1:n.*4026C>A
ENST00000665872.1:c.*3949C>A ENSP00000499600.1:n.*3949C>A
ENST00000666307.1:c.*4254C>A ENSP00000499402.1:n.*4254C>A
ENST00000670063.1:c.*3985C>A ENSP00000499725.1:n.*3985C>A
ENST00000302463.10:c.3586C>A ENSP00000302028.6:p.Leu1196Ile
ENST00000399686.6:c.2722+486C>A
ENST00000402198.5:c.3880C>A ENSP00000385852.1:p.Leu1294Ile
ENST00000406341.5:c.3880C>A ENSP00000383939.1:p.Leu1294Ile
ENST00000407969.5:c.3937C>A ENSP00000384114.1:p.Leu1313Ile
ENST00000413704.5:c.2916C>A
ENST00000459941.1:n.1011C>A
ENST00000466242.5:n.3221C>A
ENST00000466826.1:n.267C>A
ENST00000493918.5:n.4044C>A
NM_001080517.2:c.3880C>A NP_001073986.1:p.Leu1294Ile
NM_001292043.1:c.3586C>A NP_001278972.1:p.Leu1196Ile
XM_005265301.1:c.3937C>A XP_005265358.1:p.Leu1313Ile
XM_005265303.1:c.3880C>A XP_005265360.1:p.Leu1294Ile
XM_011533920.1:c.4054C>A XP_011532222.1:p.Leu1352Ile
XM_011533921.1:c.4054C>A XP_011532223.1:p.Leu1352Ile
XM_011533922.1:c.4033C>A XP_011532224.1:p.Leu1345Ile
XM_011533923.1:c.4033C>A XP_011532225.1:p.Leu1345Ile
XM_011533924.1:c.4033C>A XP_011532226.1:p.Leu1345Ile
XM_011533925.1:c.4015C>A XP_011532227.1:p.Leu1339Ile
XM_011533926.1:c.3997C>A XP_011532228.1:p.Leu1333Ile
XM_011533927.1:c.3997C>A XP_011532229.1:p.Leu1333Ile
XM_011533928.1:c.3976C>A XP_011532230.1:p.Leu1326Ile
XM_011533929.1:c.3958C>A XP_011532231.1:p.Leu1320Ile
XM_011533930.1:c.3919C>A XP_011532232.1:p.Leu1307Ile
XM_011533931.1:c.3643C>A XP_011532233.1:p.Leu1215Ile
XM_011533932.1:c.3604C>A XP_011532234.1:p.Leu1202Ile
XM_011533933.1:c.3604C>A XP_011532235.1:p.Leu1202Ile
NM_001349451.1:c.3586C>A NP_001336380.1:p.Leu1196Ile
XM_011533921.2:c.4054C>A XP_011532223.1:p.Leu1352Ile
XM_017006767.1:c.4054C>A XP_016862256.1:p.Leu1352Ile
XM_017006768.2:c.4033C>A XP_016862257.1:p.Leu1345Ile
XM_017006770.1:c.3997C>A XP_016862259.1:p.Leu1333Ile
XM_017006771.1:c.3994C>A XP_016862260.1:p.Leu1332Ile
XM_017006772.1:c.3958C>A XP_016862261.1:p.Leu1320Ile
XM_017006773.1:c.3958C>A XP_016862262.1:p.Leu1320Ile
XM_017006774.1:c.3937C>A XP_016862263.1:p.Leu1313Ile
XM_017006775.1:c.3901C>A XP_016862264.1:p.Leu1301Ile
XM_017006776.1:c.3643C>A XP_016862265.1:p.Leu1215Ile
XM_017006777.1:c.3643C>A XP_016862266.1:p.Leu1215Ile
XM_017006778.1:c.3643C>A XP_016862267.1:p.Leu1215Ile
XM_017006779.1:c.3604C>A XP_016862268.1:p.Leu1202Ile
XM_017006780.1:c.3604C>A XP_016862269.1:p.Leu1202Ile
XM_017006783.1:c.3376C>A XP_016862272.1:p.Leu1126Ile
XM_024453620.1:c.4015C>A XP_024309388.1:p.Leu1339Ile
XM_024453621.1:c.3691C>A XP_024309389.1:p.Leu1231Ile
XR_001740195.2:n.8263C>A
NM_001080517.3:c.3880C>A MANE Select NP_001073986.1:p.Leu1294Ile
NM_001292043.2:c.3586C>A NP_001278972.1:p.Leu1196Ile
NM_001349451.2:c.3586C>A NP_001336380.1:p.Leu1196Ile