Canonical Allele Identifier: CA432528574

Gene: SETD5

Linked Data

• ClinVar Variation Id: 2027383
• ClinVar RCV Id: RCV002858633
• MyVariant Identifiers: chr3:g.9517490C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475806C>T , CM000665.2:g.9475806C>T	GRCh38
NC_000003.11:g.9517490C>T , CM000665.1:g.9517490C>T	GRCh37
NC_000003.10:g.9492490C>T	NCBI36
NG_034132.1:g.83107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2999C>T
ENST00000682536.1:c.4140C>T	ENSP00000507956.1:p.Thr1380=
ENST00000687014.1:n.5033C>T
ENST00000689167.1:n.2424C>T
ENST00000693430.1:n.6286C>T
ENST00000402198.7:c.4044C>T MANE Select	ENSP00000385852.2:p.Thr1348=
ENST00000663774.1:c.*4190C>T	ENSP00000499452.1:n.*4190C>T
ENST00000665872.1:c.*4113C>T	ENSP00000499600.1:n.*4113C>T
ENST00000666307.1:c.*4418C>T	ENSP00000499402.1:n.*4418C>T
ENST00000670063.1:c.*4149C>T	ENSP00000499725.1:n.*4149C>T
ENST00000302463.10:c.3750C>T	ENSP00000302028.6:p.Thr1250=
ENST00000399686.6:c.2722+650C>T
ENST00000402198.5:c.4044C>T	ENSP00000385852.1:p.Thr1348=
ENST00000406341.5:c.4044C>T	ENSP00000383939.1:p.Thr1348=
ENST00000407969.5:c.4101C>T	ENSP00000384114.1:p.Thr1367=
ENST00000413704.5:c.3080C>T
ENST00000466242.5:n.3385C>T
ENST00000493918.5:n.4208C>T
NM_001080517.2:c.4044C>T	NP_001073986.1:p.Thr1348=
NM_001292043.1:c.3750C>T	NP_001278972.1:p.Thr1250=
XM_005265301.1:c.4101C>T	XP_005265358.1:p.Thr1367=
XM_005265303.1:c.4044C>T	XP_005265360.1:p.Thr1348=
XM_011533920.1:c.4218C>T	XP_011532222.1:p.Thr1406=
XM_011533921.1:c.4218C>T	XP_011532223.1:p.Thr1406=
XM_011533922.1:c.4197C>T	XP_011532224.1:p.Thr1399=
XM_011533923.1:c.4197C>T	XP_011532225.1:p.Thr1399=
XM_011533924.1:c.4197C>T	XP_011532226.1:p.Thr1399=
XM_011533925.1:c.4179C>T	XP_011532227.1:p.Thr1393=
XM_011533926.1:c.4161C>T	XP_011532228.1:p.Thr1387=
XM_011533927.1:c.4161C>T	XP_011532229.1:p.Thr1387=
XM_011533928.1:c.4140C>T	XP_011532230.1:p.Thr1380=
XM_011533929.1:c.4122C>T	XP_011532231.1:p.Thr1374=
XM_011533930.1:c.4083C>T	XP_011532232.1:p.Thr1361=
XM_011533931.1:c.3807C>T	XP_011532233.1:p.Thr1269=
XM_011533932.1:c.3768C>T	XP_011532234.1:p.Thr1256=
XM_011533933.1:c.3768C>T	XP_011532235.1:p.Thr1256=
NM_001349451.1:c.3750C>T	NP_001336380.1:p.Thr1250=
XM_011533921.2:c.4218C>T	XP_011532223.1:p.Thr1406=
XM_017006767.1:c.4218C>T	XP_016862256.1:p.Thr1406=
XM_017006768.2:c.4197C>T	XP_016862257.1:p.Thr1399=
XM_017006770.1:c.4161C>T	XP_016862259.1:p.Thr1387=
XM_017006771.1:c.4158C>T	XP_016862260.1:p.Thr1386=
XM_017006772.1:c.4122C>T	XP_016862261.1:p.Thr1374=
XM_017006773.1:c.4122C>T	XP_016862262.1:p.Thr1374=
XM_017006774.1:c.4101C>T	XP_016862263.1:p.Thr1367=
XM_017006775.1:c.4065C>T	XP_016862264.1:p.Thr1355=
XM_017006776.1:c.3807C>T	XP_016862265.1:p.Thr1269=
XM_017006777.1:c.3807C>T	XP_016862266.1:p.Thr1269=
XM_017006778.1:c.3807C>T	XP_016862267.1:p.Thr1269=
XM_017006779.1:c.3768C>T	XP_016862268.1:p.Thr1256=
XM_017006780.1:c.3768C>T	XP_016862269.1:p.Thr1256=
XM_017006783.1:c.3540C>T	XP_016862272.1:p.Thr1180=
XM_024453620.1:c.4179C>T	XP_024309388.1:p.Thr1393=
XM_024453621.1:c.3855C>T	XP_024309389.1:p.Thr1285=
XR_001740195.2:n.8427C>T
NM_001080517.3:c.4044C>T MANE Select	NP_001073986.1:p.Thr1348=
NM_001292043.2:c.3750C>T	NP_001278972.1:p.Thr1250=
NM_001349451.2:c.3750C>T	NP_001336380.1:p.Thr1250=