Canonical Allele Identifier: CA351690645
Gene: SETD5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475493G>C , CM000665.2:g.9475493G>C GRCh38
NC_000003.11:g.9517177G>C , CM000665.1:g.9517177G>C GRCh37
NC_000003.10:g.9492177G>C NCBI36
NG_034132.1:g.82794G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682236.1:n.2686G>C
ENST00000682536.1:c.3827G>C ENSP00000507956.1:p.Cys1276Ser
ENST00000687014.1:n.4720G>C
ENST00000689167.1:n.2111G>C
ENST00000691925.1:n.6528G>C
ENST00000693430.1:n.5973G>C
ENST00000402198.7:c.3731G>C MANE Select ENSP00000385852.2:p.Cys1244Ser
ENST00000663774.1:c.*3877G>C ENSP00000499452.1:n.*3877G>C
ENST00000665872.1:c.*3800G>C ENSP00000499600.1:n.*3800G>C
ENST00000666307.1:c.*4105G>C ENSP00000499402.1:n.*4105G>C
ENST00000670063.1:c.*3836G>C ENSP00000499725.1:n.*3836G>C
ENST00000302463.10:c.3437G>C ENSP00000302028.6:p.Cys1146Ser
ENST00000399686.6:c.2722+337G>C
ENST00000402198.5:c.3731G>C ENSP00000385852.1:p.Cys1244Ser
ENST00000406341.5:c.3731G>C ENSP00000383939.1:p.Cys1244Ser
ENST00000407969.5:c.3788G>C ENSP00000384114.1:p.Cys1263Ser
ENST00000413704.5:c.2767G>C
ENST00000459941.1:n.862G>C
ENST00000466242.5:n.3072G>C
ENST00000466826.1:n.118G>C
ENST00000493918.5:n.3895G>C
NM_001080517.2:c.3731G>C NP_001073986.1:p.Cys1244Ser
NM_001292043.1:c.3437G>C NP_001278972.1:p.Cys1146Ser
XM_005265301.1:c.3788G>C XP_005265358.1:p.Cys1263Ser
XM_005265303.1:c.3731G>C XP_005265360.1:p.Cys1244Ser
XM_011533920.1:c.3905G>C XP_011532222.1:p.Cys1302Ser
XM_011533921.1:c.3905G>C XP_011532223.1:p.Cys1302Ser
XM_011533922.1:c.3884G>C XP_011532224.1:p.Cys1295Ser
XM_011533923.1:c.3884G>C XP_011532225.1:p.Cys1295Ser
XM_011533924.1:c.3884G>C XP_011532226.1:p.Cys1295Ser
XM_011533925.1:c.3866G>C XP_011532227.1:p.Cys1289Ser
XM_011533926.1:c.3848G>C XP_011532228.1:p.Cys1283Ser
XM_011533927.1:c.3848G>C XP_011532229.1:p.Cys1283Ser
XM_011533928.1:c.3827G>C XP_011532230.1:p.Cys1276Ser
XM_011533929.1:c.3809G>C XP_011532231.1:p.Cys1270Ser
XM_011533930.1:c.3770G>C XP_011532232.1:p.Cys1257Ser
XM_011533931.1:c.3494G>C XP_011532233.1:p.Cys1165Ser
XM_011533932.1:c.3455G>C XP_011532234.1:p.Cys1152Ser
XM_011533933.1:c.3455G>C XP_011532235.1:p.Cys1152Ser
NM_001349451.1:c.3437G>C NP_001336380.1:p.Cys1146Ser
XM_011533921.2:c.3905G>C XP_011532223.1:p.Cys1302Ser
XM_017006767.1:c.3905G>C XP_016862256.1:p.Cys1302Ser
XM_017006768.2:c.3884G>C XP_016862257.1:p.Cys1295Ser
XM_017006770.1:c.3848G>C XP_016862259.1:p.Cys1283Ser
XM_017006771.1:c.3845G>C XP_016862260.1:p.Cys1282Ser
XM_017006772.1:c.3809G>C XP_016862261.1:p.Cys1270Ser
XM_017006773.1:c.3809G>C XP_016862262.1:p.Cys1270Ser
XM_017006774.1:c.3788G>C XP_016862263.1:p.Cys1263Ser
XM_017006775.1:c.3752G>C XP_016862264.1:p.Cys1251Ser
XM_017006776.1:c.3494G>C XP_016862265.1:p.Cys1165Ser
XM_017006777.1:c.3494G>C XP_016862266.1:p.Cys1165Ser
XM_017006778.1:c.3494G>C XP_016862267.1:p.Cys1165Ser
XM_017006779.1:c.3455G>C XP_016862268.1:p.Cys1152Ser
XM_017006780.1:c.3455G>C XP_016862269.1:p.Cys1152Ser
XM_017006783.1:c.3227G>C XP_016862272.1:p.Cys1076Ser
XM_024453620.1:c.3866G>C XP_024309388.1:p.Cys1289Ser
XM_024453621.1:c.3542G>C XP_024309389.1:p.Cys1181Ser
XR_001740195.2:n.8114G>C
NM_001080517.3:c.3731G>C MANE Select NP_001073986.1:p.Cys1244Ser
NM_001292043.2:c.3437G>C NP_001278972.1:p.Cys1146Ser
NM_001349451.2:c.3437G>C NP_001336380.1:p.Cys1146Ser