Canonical Allele Identifier: CA351693707

Gene: SETD5

Linked Data

• ClinVar Variation Id: 1702955
• ClinVar RCV Id: RCV002279868
• dbSNP Id: rs2125631412
• MyVariant Identifiers: chr3:g.9517460G>C (hg19) ; chr3:g.9475776G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475776G>C , CM000665.2:g.9475776G>C	GRCh38
NC_000003.11:g.9517460G>C , CM000665.1:g.9517460G>C	GRCh37
NC_000003.10:g.9492460G>C	NCBI36
NG_034132.1:g.83077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2969G>C
ENST00000682536.1:c.4110G>C	ENSP00000507956.1:p.Arg1370Ser
ENST00000687014.1:n.5003G>C
ENST00000689167.1:n.2394G>C
ENST00000693430.1:n.6256G>C
ENST00000402198.7:c.4014G>C MANE Select	ENSP00000385852.2:p.Arg1338Ser
ENST00000663774.1:c.*4160G>C	ENSP00000499452.1:n.*4160G>C
ENST00000665872.1:c.*4083G>C	ENSP00000499600.1:n.*4083G>C
ENST00000666307.1:c.*4388G>C	ENSP00000499402.1:n.*4388G>C
ENST00000670063.1:c.*4119G>C	ENSP00000499725.1:n.*4119G>C
ENST00000302463.10:c.3720G>C	ENSP00000302028.6:p.Arg1240Ser
ENST00000399686.6:c.2722+620G>C
ENST00000402198.5:c.4014G>C	ENSP00000385852.1:p.Arg1338Ser
ENST00000406341.5:c.4014G>C	ENSP00000383939.1:p.Arg1338Ser
ENST00000407969.5:c.4071G>C	ENSP00000384114.1:p.Arg1357Ser
ENST00000413704.5:c.3050G>C
ENST00000466242.5:n.3355G>C
ENST00000493918.5:n.4178G>C
NM_001080517.2:c.4014G>C	NP_001073986.1:p.Arg1338Ser
NM_001292043.1:c.3720G>C	NP_001278972.1:p.Arg1240Ser
XM_005265301.1:c.4071G>C	XP_005265358.1:p.Arg1357Ser
XM_005265303.1:c.4014G>C	XP_005265360.1:p.Arg1338Ser
XM_011533920.1:c.4188G>C	XP_011532222.1:p.Arg1396Ser
XM_011533921.1:c.4188G>C	XP_011532223.1:p.Arg1396Ser
XM_011533922.1:c.4167G>C	XP_011532224.1:p.Arg1389Ser
XM_011533923.1:c.4167G>C	XP_011532225.1:p.Arg1389Ser
XM_011533924.1:c.4167G>C	XP_011532226.1:p.Arg1389Ser
XM_011533925.1:c.4149G>C	XP_011532227.1:p.Arg1383Ser
XM_011533926.1:c.4131G>C	XP_011532228.1:p.Arg1377Ser
XM_011533927.1:c.4131G>C	XP_011532229.1:p.Arg1377Ser
XM_011533928.1:c.4110G>C	XP_011532230.1:p.Arg1370Ser
XM_011533929.1:c.4092G>C	XP_011532231.1:p.Arg1364Ser
XM_011533930.1:c.4053G>C	XP_011532232.1:p.Arg1351Ser
XM_011533931.1:c.3777G>C	XP_011532233.1:p.Arg1259Ser
XM_011533932.1:c.3738G>C	XP_011532234.1:p.Arg1246Ser
XM_011533933.1:c.3738G>C	XP_011532235.1:p.Arg1246Ser
NM_001349451.1:c.3720G>C	NP_001336380.1:p.Arg1240Ser
XM_011533921.2:c.4188G>C	XP_011532223.1:p.Arg1396Ser
XM_017006767.1:c.4188G>C	XP_016862256.1:p.Arg1396Ser
XM_017006768.2:c.4167G>C	XP_016862257.1:p.Arg1389Ser
XM_017006770.1:c.4131G>C	XP_016862259.1:p.Arg1377Ser
XM_017006771.1:c.4128G>C	XP_016862260.1:p.Arg1376Ser
XM_017006772.1:c.4092G>C	XP_016862261.1:p.Arg1364Ser
XM_017006773.1:c.4092G>C	XP_016862262.1:p.Arg1364Ser
XM_017006774.1:c.4071G>C	XP_016862263.1:p.Arg1357Ser
XM_017006775.1:c.4035G>C	XP_016862264.1:p.Arg1345Ser
XM_017006776.1:c.3777G>C	XP_016862265.1:p.Arg1259Ser
XM_017006777.1:c.3777G>C	XP_016862266.1:p.Arg1259Ser
XM_017006778.1:c.3777G>C	XP_016862267.1:p.Arg1259Ser
XM_017006779.1:c.3738G>C	XP_016862268.1:p.Arg1246Ser
XM_017006780.1:c.3738G>C	XP_016862269.1:p.Arg1246Ser
XM_017006783.1:c.3510G>C	XP_016862272.1:p.Arg1170Ser
XM_024453620.1:c.4149G>C	XP_024309388.1:p.Arg1383Ser
XM_024453621.1:c.3825G>C	XP_024309389.1:p.Arg1275Ser
XR_001740195.2:n.8397G>C
NM_001080517.3:c.4014G>C MANE Select	NP_001073986.1:p.Arg1338Ser
NM_001292043.2:c.3720G>C	NP_001278972.1:p.Arg1240Ser
NM_001349451.2:c.3720G>C	NP_001336380.1:p.Arg1240Ser