Canonical Allele Identifier: CA432528793
Gene: SETD5 HGNC NCBI

Linked Data

gnomAD v4: 3-9475653-G-C
MyVariant Identifiers: chr3:g.9517337G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475653G>C , CM000665.2:g.9475653G>C GRCh38
NC_000003.11:g.9517337G>C , CM000665.1:g.9517337G>C GRCh37
NC_000003.10:g.9492337G>C NCBI36
NG_034132.1:g.82954G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682236.1:n.2846G>C
ENST00000682536.1:c.3987G>C ENSP00000507956.1:p.Thr1329=
ENST00000687014.1:n.4880G>C
ENST00000689167.1:n.2271G>C
ENST00000691925.1:n.6688G>C
ENST00000693430.1:n.6133G>C
ENST00000402198.7:c.3891G>C MANE Select ENSP00000385852.2:p.Thr1297=
ENST00000663774.1:c.*4037G>C ENSP00000499452.1:n.*4037G>C
ENST00000665872.1:c.*3960G>C ENSP00000499600.1:n.*3960G>C
ENST00000666307.1:c.*4265G>C ENSP00000499402.1:n.*4265G>C
ENST00000670063.1:c.*3996G>C ENSP00000499725.1:n.*3996G>C
ENST00000302463.10:c.3597G>C ENSP00000302028.6:p.Thr1199=
ENST00000399686.6:c.2722+497G>C
ENST00000402198.5:c.3891G>C ENSP00000385852.1:p.Thr1297=
ENST00000406341.5:c.3891G>C ENSP00000383939.1:p.Thr1297=
ENST00000407969.5:c.3948G>C ENSP00000384114.1:p.Thr1316=
ENST00000413704.5:c.2927G>C
ENST00000459941.1:n.1022G>C
ENST00000466242.5:n.3232G>C
ENST00000466826.1:n.278G>C
ENST00000493918.5:n.4055G>C
NM_001080517.2:c.3891G>C NP_001073986.1:p.Thr1297=
NM_001292043.1:c.3597G>C NP_001278972.1:p.Thr1199=
XM_005265301.1:c.3948G>C XP_005265358.1:p.Thr1316=
XM_005265303.1:c.3891G>C XP_005265360.1:p.Thr1297=
XM_011533920.1:c.4065G>C XP_011532222.1:p.Thr1355=
XM_011533921.1:c.4065G>C XP_011532223.1:p.Thr1355=
XM_011533922.1:c.4044G>C XP_011532224.1:p.Thr1348=
XM_011533923.1:c.4044G>C XP_011532225.1:p.Thr1348=
XM_011533924.1:c.4044G>C XP_011532226.1:p.Thr1348=
XM_011533925.1:c.4026G>C XP_011532227.1:p.Thr1342=
XM_011533926.1:c.4008G>C XP_011532228.1:p.Thr1336=
XM_011533927.1:c.4008G>C XP_011532229.1:p.Thr1336=
XM_011533928.1:c.3987G>C XP_011532230.1:p.Thr1329=
XM_011533929.1:c.3969G>C XP_011532231.1:p.Thr1323=
XM_011533930.1:c.3930G>C XP_011532232.1:p.Thr1310=
XM_011533931.1:c.3654G>C XP_011532233.1:p.Thr1218=
XM_011533932.1:c.3615G>C XP_011532234.1:p.Thr1205=
XM_011533933.1:c.3615G>C XP_011532235.1:p.Thr1205=
NM_001349451.1:c.3597G>C NP_001336380.1:p.Thr1199=
XM_011533921.2:c.4065G>C XP_011532223.1:p.Thr1355=
XM_017006767.1:c.4065G>C XP_016862256.1:p.Thr1355=
XM_017006768.2:c.4044G>C XP_016862257.1:p.Thr1348=
XM_017006770.1:c.4008G>C XP_016862259.1:p.Thr1336=
XM_017006771.1:c.4005G>C XP_016862260.1:p.Thr1335=
XM_017006772.1:c.3969G>C XP_016862261.1:p.Thr1323=
XM_017006773.1:c.3969G>C XP_016862262.1:p.Thr1323=
XM_017006774.1:c.3948G>C XP_016862263.1:p.Thr1316=
XM_017006775.1:c.3912G>C XP_016862264.1:p.Thr1304=
XM_017006776.1:c.3654G>C XP_016862265.1:p.Thr1218=
XM_017006777.1:c.3654G>C XP_016862266.1:p.Thr1218=
XM_017006778.1:c.3654G>C XP_016862267.1:p.Thr1218=
XM_017006779.1:c.3615G>C XP_016862268.1:p.Thr1205=
XM_017006780.1:c.3615G>C XP_016862269.1:p.Thr1205=
XM_017006783.1:c.3387G>C XP_016862272.1:p.Thr1129=
XM_024453620.1:c.4026G>C XP_024309388.1:p.Thr1342=
XM_024453621.1:c.3702G>C XP_024309389.1:p.Thr1234=
XR_001740195.2:n.8274G>C
NM_001080517.3:c.3891G>C MANE Select NP_001073986.1:p.Thr1297=
NM_001292043.2:c.3597G>C NP_001278972.1:p.Thr1199=
NM_001349451.2:c.3597G>C NP_001336380.1:p.Thr1199=