Canonical Allele Identifier: CA351685166

Gene: SETD5

Linked Data

• MyVariant Identifiers: chr3:g.9514986G>T (hg19) ; chr3:g.9473302G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473302G>T , CM000665.2:g.9473302G>T	GRCh38
NC_000003.11:g.9514986G>T , CM000665.1:g.9514986G>T	GRCh37
NC_000003.10:g.9489986G>T	NCBI36
NG_034132.1:g.80603G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.1732G>T
ENST00000682536.1:c.3358G>T	ENSP00000507956.1:p.Asp1120Tyr
ENST00000687014.1:n.3766G>T
ENST00000689167.1:n.831G>T
ENST00000691925.1:n.4337G>T
ENST00000693430.1:n.4693G>T
ENST00000402198.7:c.3262G>T MANE Select	ENSP00000385852.2:p.Asp1088Tyr
ENST00000663774.1:c.*3408G>T	ENSP00000499452.1:n.*3408G>T
ENST00000665872.1:c.*3331G>T	ENSP00000499600.1:n.*3331G>T
ENST00000666307.1:c.*3636G>T	ENSP00000499402.1:n.*3636G>T
ENST00000670063.1:c.*3367G>T	ENSP00000499725.1:n.*3367G>T
ENST00000302463.10:c.2968G>T	ENSP00000302028.6:p.Asp990Tyr
ENST00000399686.6:c.2264G>T
ENST00000402198.5:c.3262G>T	ENSP00000385852.1:p.Asp1088Tyr
ENST00000406341.5:c.3262G>T	ENSP00000383939.1:p.Asp1088Tyr
ENST00000407969.5:c.3319G>T	ENSP00000384114.1:p.Asp1107Tyr
ENST00000413704.5:c.2298G>T
ENST00000421188.1:c.1253G>T
ENST00000466242.5:n.2603G>T
ENST00000486465.5:n.330G>T
ENST00000492939.5:n.67G>T
ENST00000493918.5:n.3426G>T
NM_001080517.2:c.3262G>T	NP_001073986.1:p.Asp1088Tyr
NM_001292043.1:c.2968G>T	NP_001278972.1:p.Asp990Tyr
XM_005265301.1:c.3319G>T	XP_005265358.1:p.Asp1107Tyr
XM_005265303.1:c.3262G>T	XP_005265360.1:p.Asp1088Tyr
XM_011533920.1:c.3436G>T	XP_011532222.1:p.Asp1146Tyr
XM_011533921.1:c.3436G>T	XP_011532223.1:p.Asp1146Tyr
XM_011533922.1:c.3415G>T	XP_011532224.1:p.Asp1139Tyr
XM_011533923.1:c.3415G>T	XP_011532225.1:p.Asp1139Tyr
XM_011533924.1:c.3415G>T	XP_011532226.1:p.Asp1139Tyr
XM_011533925.1:c.3397G>T	XP_011532227.1:p.Asp1133Tyr
XM_011533926.1:c.3379G>T	XP_011532228.1:p.Asp1127Tyr
XM_011533927.1:c.3379G>T	XP_011532229.1:p.Asp1127Tyr
XM_011533928.1:c.3358G>T	XP_011532230.1:p.Asp1120Tyr
XM_011533929.1:c.3340G>T	XP_011532231.1:p.Asp1114Tyr
XM_011533930.1:c.3301G>T	XP_011532232.1:p.Asp1101Tyr
XM_011533931.1:c.3025G>T	XP_011532233.1:p.Asp1009Tyr
XM_011533932.1:c.2986G>T	XP_011532234.1:p.Asp996Tyr
XM_011533933.1:c.2986G>T	XP_011532235.1:p.Asp996Tyr
XM_011533934.1:c.3436G>T	XP_011532236.1:p.Asp1146Tyr
NM_001349451.1:c.2968G>T	NP_001336380.1:p.Asp990Tyr
XM_011533921.2:c.3436G>T	XP_011532223.1:p.Asp1146Tyr
XM_017006767.1:c.3436G>T	XP_016862256.1:p.Asp1146Tyr
XM_017006768.2:c.3415G>T	XP_016862257.1:p.Asp1139Tyr
XM_017006770.1:c.3379G>T	XP_016862259.1:p.Asp1127Tyr
XM_017006771.1:c.3376G>T	XP_016862260.1:p.Asp1126Tyr
XM_017006772.1:c.3340G>T	XP_016862261.1:p.Asp1114Tyr
XM_017006773.1:c.3340G>T	XP_016862262.1:p.Asp1114Tyr
XM_017006774.1:c.3319G>T	XP_016862263.1:p.Asp1107Tyr
XM_017006775.1:c.3283G>T	XP_016862264.1:p.Asp1095Tyr
XM_017006776.1:c.3025G>T	XP_016862265.1:p.Asp1009Tyr
XM_017006777.1:c.3025G>T	XP_016862266.1:p.Asp1009Tyr
XM_017006778.1:c.3025G>T	XP_016862267.1:p.Asp1009Tyr
XM_017006779.1:c.2986G>T	XP_016862268.1:p.Asp996Tyr
XM_017006780.1:c.2986G>T	XP_016862269.1:p.Asp996Tyr
XM_017006782.1:c.3436G>T	XP_016862271.1:p.Asp1146Tyr
XM_017006783.1:c.2758G>T	XP_016862272.1:p.Asp920Tyr
XM_024453620.1:c.3397G>T	XP_024309388.1:p.Asp1133Tyr
XM_024453621.1:c.3073G>T	XP_024309389.1:p.Asp1025Tyr
XR_001740195.2:n.7645G>T
NM_001080517.3:c.3262G>T MANE Select	NP_001073986.1:p.Asp1088Tyr
NM_001292043.2:c.2968G>T	NP_001278972.1:p.Asp990Tyr
NM_001349451.2:c.2968G>T	NP_001336380.1:p.Asp990Tyr