Canonical Allele Identifier: CA351685261

Gene: SETD5

Linked Data

• dbSNP Id: rs1258946949
• gnomAD v2: 3-9514996-A-C
• gnomAD v4: 3-9473312-A-C
• MyVariant Identifiers: chr3:g.9514996A>C (hg19) ; chr3:g.9473312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473312A>C , CM000665.2:g.9473312A>C	GRCh38
NC_000003.11:g.9514996A>C , CM000665.1:g.9514996A>C	GRCh37
NC_000003.10:g.9489996A>C	NCBI36
NG_034132.1:g.80613A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.1742A>C
ENST00000682536.1:c.3368A>C	ENSP00000507956.1:p.Gln1123Pro
ENST00000687014.1:n.3776A>C
ENST00000689167.1:n.841A>C
ENST00000691925.1:n.4347A>C
ENST00000693430.1:n.4703A>C
ENST00000402198.7:c.3272A>C MANE Select	ENSP00000385852.2:p.Gln1091Pro
ENST00000663774.1:c.*3418A>C	ENSP00000499452.1:n.*3418A>C
ENST00000665872.1:c.*3341A>C	ENSP00000499600.1:n.*3341A>C
ENST00000666307.1:c.*3646A>C	ENSP00000499402.1:n.*3646A>C
ENST00000670063.1:c.*3377A>C	ENSP00000499725.1:n.*3377A>C
ENST00000302463.10:c.2978A>C	ENSP00000302028.6:p.Gln993Pro
ENST00000399686.6:c.2274A>C
ENST00000402198.5:c.3272A>C	ENSP00000385852.1:p.Gln1091Pro
ENST00000406341.5:c.3272A>C	ENSP00000383939.1:p.Gln1091Pro
ENST00000407969.5:c.3329A>C	ENSP00000384114.1:p.Gln1110Pro
ENST00000413704.5:c.2308A>C
ENST00000421188.1:c.1263A>C
ENST00000466242.5:n.2613A>C
ENST00000486465.5:n.340A>C
ENST00000492939.5:n.77A>C
ENST00000493918.5:n.3436A>C
NM_001080517.2:c.3272A>C	NP_001073986.1:p.Gln1091Pro
NM_001292043.1:c.2978A>C	NP_001278972.1:p.Gln993Pro
XM_005265301.1:c.3329A>C	XP_005265358.1:p.Gln1110Pro
XM_005265303.1:c.3272A>C	XP_005265360.1:p.Gln1091Pro
XM_011533920.1:c.3446A>C	XP_011532222.1:p.Gln1149Pro
XM_011533921.1:c.3446A>C	XP_011532223.1:p.Gln1149Pro
XM_011533922.1:c.3425A>C	XP_011532224.1:p.Gln1142Pro
XM_011533923.1:c.3425A>C	XP_011532225.1:p.Gln1142Pro
XM_011533924.1:c.3425A>C	XP_011532226.1:p.Gln1142Pro
XM_011533925.1:c.3407A>C	XP_011532227.1:p.Gln1136Pro
XM_011533926.1:c.3389A>C	XP_011532228.1:p.Gln1130Pro
XM_011533927.1:c.3389A>C	XP_011532229.1:p.Gln1130Pro
XM_011533928.1:c.3368A>C	XP_011532230.1:p.Gln1123Pro
XM_011533929.1:c.3350A>C	XP_011532231.1:p.Gln1117Pro
XM_011533930.1:c.3311A>C	XP_011532232.1:p.Gln1104Pro
XM_011533931.1:c.3035A>C	XP_011532233.1:p.Gln1012Pro
XM_011533932.1:c.2996A>C	XP_011532234.1:p.Gln999Pro
XM_011533933.1:c.2996A>C	XP_011532235.1:p.Gln999Pro
XM_011533934.1:c.3446A>C	XP_011532236.1:p.Gln1149Pro
NM_001349451.1:c.2978A>C	NP_001336380.1:p.Gln993Pro
XM_011533921.2:c.3446A>C	XP_011532223.1:p.Gln1149Pro
XM_017006767.1:c.3446A>C	XP_016862256.1:p.Gln1149Pro
XM_017006768.2:c.3425A>C	XP_016862257.1:p.Gln1142Pro
XM_017006770.1:c.3389A>C	XP_016862259.1:p.Gln1130Pro
XM_017006771.1:c.3386A>C	XP_016862260.1:p.Gln1129Pro
XM_017006772.1:c.3350A>C	XP_016862261.1:p.Gln1117Pro
XM_017006773.1:c.3350A>C	XP_016862262.1:p.Gln1117Pro
XM_017006774.1:c.3329A>C	XP_016862263.1:p.Gln1110Pro
XM_017006775.1:c.3293A>C	XP_016862264.1:p.Gln1098Pro
XM_017006776.1:c.3035A>C	XP_016862265.1:p.Gln1012Pro
XM_017006777.1:c.3035A>C	XP_016862266.1:p.Gln1012Pro
XM_017006778.1:c.3035A>C	XP_016862267.1:p.Gln1012Pro
XM_017006779.1:c.2996A>C	XP_016862268.1:p.Gln999Pro
XM_017006780.1:c.2996A>C	XP_016862269.1:p.Gln999Pro
XM_017006782.1:c.3446A>C	XP_016862271.1:p.Gln1149Pro
XM_017006783.1:c.2768A>C	XP_016862272.1:p.Gln923Pro
XM_024453620.1:c.3407A>C	XP_024309388.1:p.Gln1136Pro
XM_024453621.1:c.3083A>C	XP_024309389.1:p.Gln1028Pro
XR_001740195.2:n.7655A>C
NM_001080517.3:c.3272A>C MANE Select	NP_001073986.1:p.Gln1091Pro
NM_001292043.2:c.2978A>C	NP_001278972.1:p.Gln993Pro
NM_001349451.2:c.2978A>C	NP_001336380.1:p.Gln993Pro