Canonical Allele Identifier: CA2239839

Gene: SETD5

Linked Data

• ClinVar Variation Id: 2173996
• ClinVar RCV Id: RCV002598786
• dbSNP Id: rs571656928
• ExAC: 3:9517391 G / A
• gnomAD v2: 3-9517391-G-A
• gnomAD v3: 3-9475707-G-A
• gnomAD v4: 3-9475707-G-A
• MyVariant Identifiers: chr3:g.9517391G>A (hg19) ; chr3:g.9475707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475707G>A , CM000665.2:g.9475707G>A	GRCh38
NC_000003.11:g.9517391G>A , CM000665.1:g.9517391G>A	GRCh37
NC_000003.10:g.9492391G>A	NCBI36
NG_034132.1:g.83008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2900G>A
ENST00000682536.1:c.4041G>A	ENSP00000507956.1:p.Thr1347=
ENST00000687014.1:n.4934G>A
ENST00000689167.1:n.2325G>A
ENST00000693430.1:n.6187G>A
ENST00000402198.7:c.3945G>A MANE Select	ENSP00000385852.2:p.Thr1315=
ENST00000663774.1:c.*4091G>A	ENSP00000499452.1:n.*4091G>A
ENST00000665872.1:c.*4014G>A	ENSP00000499600.1:n.*4014G>A
ENST00000666307.1:c.*4319G>A	ENSP00000499402.1:n.*4319G>A
ENST00000670063.1:c.*4050G>A	ENSP00000499725.1:n.*4050G>A
ENST00000302463.10:c.3651G>A	ENSP00000302028.6:p.Thr1217=
ENST00000399686.6:c.2722+551G>A
ENST00000402198.5:c.3945G>A	ENSP00000385852.1:p.Thr1315=
ENST00000406341.5:c.3945G>A	ENSP00000383939.1:p.Thr1315=
ENST00000407969.5:c.4002G>A	ENSP00000384114.1:p.Thr1334=
ENST00000413704.5:c.2981G>A
ENST00000466242.5:n.3286G>A
ENST00000493918.5:n.4109G>A
NM_001080517.2:c.3945G>A	NP_001073986.1:p.Thr1315=
NM_001292043.1:c.3651G>A	NP_001278972.1:p.Thr1217=
XM_005265301.1:c.4002G>A	XP_005265358.1:p.Thr1334=
XM_005265303.1:c.3945G>A	XP_005265360.1:p.Thr1315=
XM_011533920.1:c.4119G>A	XP_011532222.1:p.Thr1373=
XM_011533921.1:c.4119G>A	XP_011532223.1:p.Thr1373=
XM_011533922.1:c.4098G>A	XP_011532224.1:p.Thr1366=
XM_011533923.1:c.4098G>A	XP_011532225.1:p.Thr1366=
XM_011533924.1:c.4098G>A	XP_011532226.1:p.Thr1366=
XM_011533925.1:c.4080G>A	XP_011532227.1:p.Thr1360=
XM_011533926.1:c.4062G>A	XP_011532228.1:p.Thr1354=
XM_011533927.1:c.4062G>A	XP_011532229.1:p.Thr1354=
XM_011533928.1:c.4041G>A	XP_011532230.1:p.Thr1347=
XM_011533929.1:c.4023G>A	XP_011532231.1:p.Thr1341=
XM_011533930.1:c.3984G>A	XP_011532232.1:p.Thr1328=
XM_011533931.1:c.3708G>A	XP_011532233.1:p.Thr1236=
XM_011533932.1:c.3669G>A	XP_011532234.1:p.Thr1223=
XM_011533933.1:c.3669G>A	XP_011532235.1:p.Thr1223=
NM_001349451.1:c.3651G>A	NP_001336380.1:p.Thr1217=
XM_011533921.2:c.4119G>A	XP_011532223.1:p.Thr1373=
XM_017006767.1:c.4119G>A	XP_016862256.1:p.Thr1373=
XM_017006768.2:c.4098G>A	XP_016862257.1:p.Thr1366=
XM_017006770.1:c.4062G>A	XP_016862259.1:p.Thr1354=
XM_017006771.1:c.4059G>A	XP_016862260.1:p.Thr1353=
XM_017006772.1:c.4023G>A	XP_016862261.1:p.Thr1341=
XM_017006773.1:c.4023G>A	XP_016862262.1:p.Thr1341=
XM_017006774.1:c.4002G>A	XP_016862263.1:p.Thr1334=
XM_017006775.1:c.3966G>A	XP_016862264.1:p.Thr1322=
XM_017006776.1:c.3708G>A	XP_016862265.1:p.Thr1236=
XM_017006777.1:c.3708G>A	XP_016862266.1:p.Thr1236=
XM_017006778.1:c.3708G>A	XP_016862267.1:p.Thr1236=
XM_017006779.1:c.3669G>A	XP_016862268.1:p.Thr1223=
XM_017006780.1:c.3669G>A	XP_016862269.1:p.Thr1223=
XM_017006783.1:c.3441G>A	XP_016862272.1:p.Thr1147=
XM_024453620.1:c.4080G>A	XP_024309388.1:p.Thr1360=
XM_024453621.1:c.3756G>A	XP_024309389.1:p.Thr1252=
XR_001740195.2:n.8328G>A
NM_001080517.3:c.3945G>A MANE Select	NP_001073986.1:p.Thr1315=
NM_001292043.2:c.3651G>A	NP_001278972.1:p.Thr1217=
NM_001349451.2:c.3651G>A	NP_001336380.1:p.Thr1217=