Canonical Allele Identifier: CA2239681

Gene: SETD5

Linked Data

• ClinVar Variation Id: 2779549
• ClinVar RCV Id: RCV003663686
• dbSNP Id: rs754325010
• ExAC: 3:9515099 C / T
• gnomAD v2: 3-9515099-C-T
• gnomAD v3: 3-9473415-C-T
• gnomAD v4: 3-9473415-C-T
• MyVariant Identifiers: chr3:g.9515099C>T (hg19) ; chr3:g.9473415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473415C>T , CM000665.2:g.9473415C>T	GRCh38
NC_000003.11:g.9515099C>T , CM000665.1:g.9515099C>T	GRCh37
NC_000003.10:g.9490099C>T	NCBI36
NG_034132.1:g.80716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.1845C>T
ENST00000682536.1:c.3471C>T	ENSP00000507956.1:p.Ser1157=
ENST00000687014.1:n.3879C>T
ENST00000689167.1:n.944C>T
ENST00000691925.1:n.4450C>T
ENST00000693430.1:n.4806C>T
ENST00000402198.7:c.3375C>T MANE Select	ENSP00000385852.2:p.Ser1125=
ENST00000663774.1:c.*3521C>T	ENSP00000499452.1:n.*3521C>T
ENST00000665872.1:c.*3444C>T	ENSP00000499600.1:n.*3444C>T
ENST00000666307.1:c.*3749C>T	ENSP00000499402.1:n.*3749C>T
ENST00000670063.1:c.*3480C>T	ENSP00000499725.1:n.*3480C>T
ENST00000302463.10:c.3081C>T	ENSP00000302028.6:p.Ser1027=
ENST00000399686.6:c.2377C>T
ENST00000402198.5:c.3375C>T	ENSP00000385852.1:p.Ser1125=
ENST00000406341.5:c.3375C>T	ENSP00000383939.1:p.Ser1125=
ENST00000407969.5:c.3432C>T	ENSP00000384114.1:p.Ser1144=
ENST00000413704.5:c.2411C>T
ENST00000459941.1:n.21C>T
ENST00000466242.5:n.2716C>T
ENST00000486465.5:n.443C>T
ENST00000492939.5:n.180C>T
ENST00000493918.5:n.3539C>T
NM_001080517.2:c.3375C>T	NP_001073986.1:p.Ser1125=
NM_001292043.1:c.3081C>T	NP_001278972.1:p.Ser1027=
XM_005265301.1:c.3432C>T	XP_005265358.1:p.Ser1144=
XM_005265303.1:c.3375C>T	XP_005265360.1:p.Ser1125=
XM_011533920.1:c.3549C>T	XP_011532222.1:p.Ser1183=
XM_011533921.1:c.3549C>T	XP_011532223.1:p.Ser1183=
XM_011533922.1:c.3528C>T	XP_011532224.1:p.Ser1176=
XM_011533923.1:c.3528C>T	XP_011532225.1:p.Ser1176=
XM_011533924.1:c.3528C>T	XP_011532226.1:p.Ser1176=
XM_011533925.1:c.3510C>T	XP_011532227.1:p.Ser1170=
XM_011533926.1:c.3492C>T	XP_011532228.1:p.Ser1164=
XM_011533927.1:c.3492C>T	XP_011532229.1:p.Ser1164=
XM_011533928.1:c.3471C>T	XP_011532230.1:p.Ser1157=
XM_011533929.1:c.3453C>T	XP_011532231.1:p.Ser1151=
XM_011533930.1:c.3414C>T	XP_011532232.1:p.Ser1138=
XM_011533931.1:c.3138C>T	XP_011532233.1:p.Ser1046=
XM_011533932.1:c.3099C>T	XP_011532234.1:p.Ser1033=
XM_011533933.1:c.3099C>T	XP_011532235.1:p.Ser1033=
XM_011533934.1:c.3549C>T	XP_011532236.1:p.Ser1183=
NM_001349451.1:c.3081C>T	NP_001336380.1:p.Ser1027=
XM_011533921.2:c.3549C>T	XP_011532223.1:p.Ser1183=
XM_017006767.1:c.3549C>T	XP_016862256.1:p.Ser1183=
XM_017006768.2:c.3528C>T	XP_016862257.1:p.Ser1176=
XM_017006770.1:c.3492C>T	XP_016862259.1:p.Ser1164=
XM_017006771.1:c.3489C>T	XP_016862260.1:p.Ser1163=
XM_017006772.1:c.3453C>T	XP_016862261.1:p.Ser1151=
XM_017006773.1:c.3453C>T	XP_016862262.1:p.Ser1151=
XM_017006774.1:c.3432C>T	XP_016862263.1:p.Ser1144=
XM_017006775.1:c.3396C>T	XP_016862264.1:p.Ser1132=
XM_017006776.1:c.3138C>T	XP_016862265.1:p.Ser1046=
XM_017006777.1:c.3138C>T	XP_016862266.1:p.Ser1046=
XM_017006778.1:c.3138C>T	XP_016862267.1:p.Ser1046=
XM_017006779.1:c.3099C>T	XP_016862268.1:p.Ser1033=
XM_017006780.1:c.3099C>T	XP_016862269.1:p.Ser1033=
XM_017006782.1:c.3549C>T	XP_016862271.1:p.Ser1183=
XM_017006783.1:c.2871C>T	XP_016862272.1:p.Ser957=
XM_024453620.1:c.3510C>T	XP_024309388.1:p.Ser1170=
XM_024453621.1:c.3186C>T	XP_024309389.1:p.Ser1062=
XR_001740195.2:n.7758C>T
NM_001080517.3:c.3375C>T MANE Select	NP_001073986.1:p.Ser1125=
NM_001292043.2:c.3081C>T	NP_001278972.1:p.Ser1027=
NM_001349451.2:c.3081C>T	NP_001336380.1:p.Ser1027=