Canonical Allele Identifier: CA351685433

Gene: SETD5

Linked Data

• dbSNP Id: rs1358768707
• gnomAD v2: 3-9515016-G-A
• gnomAD v4: 3-9473332-G-A
• MyVariant Identifiers: chr3:g.9515016G>A (hg19) ; chr3:g.9473332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473332G>A , CM000665.2:g.9473332G>A	GRCh38
NC_000003.11:g.9515016G>A , CM000665.1:g.9515016G>A	GRCh37
NC_000003.10:g.9490016G>A	NCBI36
NG_034132.1:g.80633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.1762G>A
ENST00000682536.1:c.3388G>A	ENSP00000507956.1:p.Gly1130Arg
ENST00000687014.1:n.3796G>A
ENST00000689167.1:n.861G>A
ENST00000691925.1:n.4367G>A
ENST00000693430.1:n.4723G>A
ENST00000402198.7:c.3292G>A MANE Select	ENSP00000385852.2:p.Gly1098Arg
ENST00000663774.1:c.*3438G>A	ENSP00000499452.1:n.*3438G>A
ENST00000665872.1:c.*3361G>A	ENSP00000499600.1:n.*3361G>A
ENST00000666307.1:c.*3666G>A	ENSP00000499402.1:n.*3666G>A
ENST00000670063.1:c.*3397G>A	ENSP00000499725.1:n.*3397G>A
ENST00000302463.10:c.2998G>A	ENSP00000302028.6:p.Gly1000Arg
ENST00000399686.6:c.2294G>A
ENST00000402198.5:c.3292G>A	ENSP00000385852.1:p.Gly1098Arg
ENST00000406341.5:c.3292G>A	ENSP00000383939.1:p.Gly1098Arg
ENST00000407969.5:c.3349G>A	ENSP00000384114.1:p.Gly1117Arg
ENST00000413704.5:c.2328G>A
ENST00000421188.1:c.1283G>A
ENST00000466242.5:n.2633G>A
ENST00000486465.5:n.360G>A
ENST00000492939.5:n.97G>A
ENST00000493918.5:n.3456G>A
NM_001080517.2:c.3292G>A	NP_001073986.1:p.Gly1098Arg
NM_001292043.1:c.2998G>A	NP_001278972.1:p.Gly1000Arg
XM_005265301.1:c.3349G>A	XP_005265358.1:p.Gly1117Arg
XM_005265303.1:c.3292G>A	XP_005265360.1:p.Gly1098Arg
XM_011533920.1:c.3466G>A	XP_011532222.1:p.Gly1156Arg
XM_011533921.1:c.3466G>A	XP_011532223.1:p.Gly1156Arg
XM_011533922.1:c.3445G>A	XP_011532224.1:p.Gly1149Arg
XM_011533923.1:c.3445G>A	XP_011532225.1:p.Gly1149Arg
XM_011533924.1:c.3445G>A	XP_011532226.1:p.Gly1149Arg
XM_011533925.1:c.3427G>A	XP_011532227.1:p.Gly1143Arg
XM_011533926.1:c.3409G>A	XP_011532228.1:p.Gly1137Arg
XM_011533927.1:c.3409G>A	XP_011532229.1:p.Gly1137Arg
XM_011533928.1:c.3388G>A	XP_011532230.1:p.Gly1130Arg
XM_011533929.1:c.3370G>A	XP_011532231.1:p.Gly1124Arg
XM_011533930.1:c.3331G>A	XP_011532232.1:p.Gly1111Arg
XM_011533931.1:c.3055G>A	XP_011532233.1:p.Gly1019Arg
XM_011533932.1:c.3016G>A	XP_011532234.1:p.Gly1006Arg
XM_011533933.1:c.3016G>A	XP_011532235.1:p.Gly1006Arg
XM_011533934.1:c.3466G>A	XP_011532236.1:p.Gly1156Arg
NM_001349451.1:c.2998G>A	NP_001336380.1:p.Gly1000Arg
XM_011533921.2:c.3466G>A	XP_011532223.1:p.Gly1156Arg
XM_017006767.1:c.3466G>A	XP_016862256.1:p.Gly1156Arg
XM_017006768.2:c.3445G>A	XP_016862257.1:p.Gly1149Arg
XM_017006770.1:c.3409G>A	XP_016862259.1:p.Gly1137Arg
XM_017006771.1:c.3406G>A	XP_016862260.1:p.Gly1136Arg
XM_017006772.1:c.3370G>A	XP_016862261.1:p.Gly1124Arg
XM_017006773.1:c.3370G>A	XP_016862262.1:p.Gly1124Arg
XM_017006774.1:c.3349G>A	XP_016862263.1:p.Gly1117Arg
XM_017006775.1:c.3313G>A	XP_016862264.1:p.Gly1105Arg
XM_017006776.1:c.3055G>A	XP_016862265.1:p.Gly1019Arg
XM_017006777.1:c.3055G>A	XP_016862266.1:p.Gly1019Arg
XM_017006778.1:c.3055G>A	XP_016862267.1:p.Gly1019Arg
XM_017006779.1:c.3016G>A	XP_016862268.1:p.Gly1006Arg
XM_017006780.1:c.3016G>A	XP_016862269.1:p.Gly1006Arg
XM_017006782.1:c.3466G>A	XP_016862271.1:p.Gly1156Arg
XM_017006783.1:c.2788G>A	XP_016862272.1:p.Gly930Arg
XM_024453620.1:c.3427G>A	XP_024309388.1:p.Gly1143Arg
XM_024453621.1:c.3103G>A	XP_024309389.1:p.Gly1035Arg
XR_001740195.2:n.7675G>A
NM_001080517.3:c.3292G>A MANE Select	NP_001073986.1:p.Gly1098Arg
NM_001292043.2:c.2998G>A	NP_001278972.1:p.Gly1000Arg
NM_001349451.2:c.2998G>A	NP_001336380.1:p.Gly1000Arg