Canonical Allele Identifier: CA351692539

Gene: SETD5

Linked Data

• dbSNP Id: rs1246406936
• gnomAD v2: 3-9517363-T-C
• gnomAD v4: 3-9475679-T-C
• MyVariant Identifiers: chr3:g.9517363T>C (hg19) ; chr3:g.9475679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475679T>C , CM000665.2:g.9475679T>C	GRCh38
NC_000003.11:g.9517363T>C , CM000665.1:g.9517363T>C	GRCh37
NC_000003.10:g.9492363T>C	NCBI36
NG_034132.1:g.82980T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2872T>C
ENST00000682536.1:c.4013T>C	ENSP00000507956.1:p.Val1338Ala
ENST00000687014.1:n.4906T>C
ENST00000689167.1:n.2297T>C
ENST00000693430.1:n.6159T>C
ENST00000402198.7:c.3917T>C MANE Select	ENSP00000385852.2:p.Val1306Ala
ENST00000663774.1:c.*4063T>C	ENSP00000499452.1:n.*4063T>C
ENST00000665872.1:c.*3986T>C	ENSP00000499600.1:n.*3986T>C
ENST00000666307.1:c.*4291T>C	ENSP00000499402.1:n.*4291T>C
ENST00000670063.1:c.*4022T>C	ENSP00000499725.1:n.*4022T>C
ENST00000302463.10:c.3623T>C	ENSP00000302028.6:p.Val1208Ala
ENST00000399686.6:c.2722+523T>C
ENST00000402198.5:c.3917T>C	ENSP00000385852.1:p.Val1306Ala
ENST00000406341.5:c.3917T>C	ENSP00000383939.1:p.Val1306Ala
ENST00000407969.5:c.3974T>C	ENSP00000384114.1:p.Val1325Ala
ENST00000413704.5:c.2953T>C
ENST00000459941.1:n.1048T>C
ENST00000466242.5:n.3258T>C
ENST00000493918.5:n.4081T>C
NM_001080517.2:c.3917T>C	NP_001073986.1:p.Val1306Ala
NM_001292043.1:c.3623T>C	NP_001278972.1:p.Val1208Ala
XM_005265301.1:c.3974T>C	XP_005265358.1:p.Val1325Ala
XM_005265303.1:c.3917T>C	XP_005265360.1:p.Val1306Ala
XM_011533920.1:c.4091T>C	XP_011532222.1:p.Val1364Ala
XM_011533921.1:c.4091T>C	XP_011532223.1:p.Val1364Ala
XM_011533922.1:c.4070T>C	XP_011532224.1:p.Val1357Ala
XM_011533923.1:c.4070T>C	XP_011532225.1:p.Val1357Ala
XM_011533924.1:c.4070T>C	XP_011532226.1:p.Val1357Ala
XM_011533925.1:c.4052T>C	XP_011532227.1:p.Val1351Ala
XM_011533926.1:c.4034T>C	XP_011532228.1:p.Val1345Ala
XM_011533927.1:c.4034T>C	XP_011532229.1:p.Val1345Ala
XM_011533928.1:c.4013T>C	XP_011532230.1:p.Val1338Ala
XM_011533929.1:c.3995T>C	XP_011532231.1:p.Val1332Ala
XM_011533930.1:c.3956T>C	XP_011532232.1:p.Val1319Ala
XM_011533931.1:c.3680T>C	XP_011532233.1:p.Val1227Ala
XM_011533932.1:c.3641T>C	XP_011532234.1:p.Val1214Ala
XM_011533933.1:c.3641T>C	XP_011532235.1:p.Val1214Ala
NM_001349451.1:c.3623T>C	NP_001336380.1:p.Val1208Ala
XM_011533921.2:c.4091T>C	XP_011532223.1:p.Val1364Ala
XM_017006767.1:c.4091T>C	XP_016862256.1:p.Val1364Ala
XM_017006768.2:c.4070T>C	XP_016862257.1:p.Val1357Ala
XM_017006770.1:c.4034T>C	XP_016862259.1:p.Val1345Ala
XM_017006771.1:c.4031T>C	XP_016862260.1:p.Val1344Ala
XM_017006772.1:c.3995T>C	XP_016862261.1:p.Val1332Ala
XM_017006773.1:c.3995T>C	XP_016862262.1:p.Val1332Ala
XM_017006774.1:c.3974T>C	XP_016862263.1:p.Val1325Ala
XM_017006775.1:c.3938T>C	XP_016862264.1:p.Val1313Ala
XM_017006776.1:c.3680T>C	XP_016862265.1:p.Val1227Ala
XM_017006777.1:c.3680T>C	XP_016862266.1:p.Val1227Ala
XM_017006778.1:c.3680T>C	XP_016862267.1:p.Val1227Ala
XM_017006779.1:c.3641T>C	XP_016862268.1:p.Val1214Ala
XM_017006780.1:c.3641T>C	XP_016862269.1:p.Val1214Ala
XM_017006783.1:c.3413T>C	XP_016862272.1:p.Val1138Ala
XM_024453620.1:c.4052T>C	XP_024309388.1:p.Val1351Ala
XM_024453621.1:c.3728T>C	XP_024309389.1:p.Val1243Ala
XR_001740195.2:n.8300T>C
NM_001080517.3:c.3917T>C MANE Select	NP_001073986.1:p.Val1306Ala
NM_001292043.2:c.3623T>C	NP_001278972.1:p.Val1208Ala
NM_001349451.2:c.3623T>C	NP_001336380.1:p.Val1208Ala