Canonical Allele Identifier: CA432368604

Gene: SETD5

Linked Data

• ClinVar Variation Id: 436683
• ClinVar RCV Id: RCV000504352 ; RCV000924179
• dbSNP Id: rs1471141437
• gnomAD v2: 3-9477566-A-G
• gnomAD v4: 3-9435882-A-G
• MyVariant Identifiers: chr3:g.9477566A>G (hg19) ; chr3:g.9435882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9435882A>G , CM000665.2:g.9435882A>G	GRCh38
NC_000003.11:g.9477566A>G , CM000665.1:g.9477566A>G	GRCh37
NC_000003.10:g.9452566A>G	NCBI36
NG_034132.1:g.43183A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682536.1:c.600A>G	ENSP00000507956.1:p.Ala200=
ENST00000684055.1:c.543A>G	ENSP00000507953.1:p.Ala181=
ENST00000684606.1:c.*666A>G	ENSP00000506817.1:n.*666A>G
ENST00000688835.1:n.1561A>G
ENST00000691175.1:n.1618A>G
ENST00000691659.1:n.237A>G
ENST00000691925.1:n.1618A>G
ENST00000693430.1:n.1618A>G
ENST00000402198.7:c.543A>G MANE Select	ENSP00000385852.2:p.Ala181=
ENST00000663774.1:c.*650A>G	ENSP00000499452.1:n.*650A>G
ENST00000665872.1:c.*609A>G	ENSP00000499600.1:n.*609A>G
ENST00000666307.1:c.*802A>G	ENSP00000499402.1:n.*802A>G
ENST00000670063.1:c.*609A>G	ENSP00000499725.1:n.*609A>G
ENST00000302463.10:c.210A>G	ENSP00000302028.6:p.Ala70=
ENST00000402198.5:c.543A>G	ENSP00000385852.1:p.Ala181=
ENST00000406341.5:c.543A>G	ENSP00000383939.1:p.Ala181=
ENST00000407969.5:c.600A>G	ENSP00000384114.1:p.Ala200=
ENST00000431285.5:c.*859A>G	ENSP00000397076.1:n.*859A>G
ENST00000442373.5:c.210A>G	ENSP00000408837.1:p.Ala70=
ENST00000443339.5:c.*803A>G	ENSP00000393221.1:n.*803A>G
ENST00000490791.5:n.591A>G
ENST00000493918.5:n.707A>G
NM_001080517.2:c.543A>G	NP_001073986.1:p.Ala181=
NM_001292043.1:c.210A>G	NP_001278972.1:p.Ala70=
XM_005265301.1:c.600A>G	XP_005265358.1:p.Ala200=
XM_005265303.1:c.486A>G	XP_005265360.1:p.Ala162=
XM_011533920.1:c.621A>G	XP_011532222.1:p.Ala207=
XM_011533921.1:c.621A>G	XP_011532223.1:p.Ala207=
XM_011533922.1:c.600A>G	XP_011532224.1:p.Ala200=
XM_011533923.1:c.600A>G	XP_011532225.1:p.Ala200=
XM_011533924.1:c.600A>G	XP_011532226.1:p.Ala200=
XM_011533925.1:c.621A>G	XP_011532227.1:p.Ala207=
XM_011533926.1:c.621A>G	XP_011532228.1:p.Ala207=
XM_011533927.1:c.564A>G	XP_011532229.1:p.Ala188=
XM_011533928.1:c.543A>G	XP_011532230.1:p.Ala181=
XM_011533929.1:c.621A>G	XP_011532231.1:p.Ala207=
XM_011533930.1:c.486A>G	XP_011532232.1:p.Ala162=
XM_011533931.1:c.210A>G	XP_011532233.1:p.Ala70=
XM_011533932.1:c.210A>G	XP_011532234.1:p.Ala70=
XM_011533933.1:c.210A>G	XP_011532235.1:p.Ala70=
XM_011533934.1:c.621A>G	XP_011532236.1:p.Ala207=
XM_011533935.1:c.621A>G	XP_011532237.1:p.Ala207=
XM_011533936.1:c.621A>G	XP_011532238.1:p.Ala207=
NM_001349451.1:c.210A>G	NP_001336380.1:p.Ala70=
XM_011533921.2:c.621A>G	XP_011532223.1:p.Ala207=
XM_017006767.1:c.621A>G	XP_016862256.1:p.Ala207=
XM_017006768.2:c.600A>G	XP_016862257.1:p.Ala200=
XM_017006770.1:c.621A>G	XP_016862259.1:p.Ala207=
XM_017006771.1:c.600A>G	XP_016862260.1:p.Ala200=
XM_017006772.1:c.621A>G	XP_016862261.1:p.Ala207=
XM_017006773.1:c.564A>G	XP_016862262.1:p.Ala188=
XM_017006774.1:c.543A>G	XP_016862263.1:p.Ala181=
XM_017006775.1:c.564A>G	XP_016862264.1:p.Ala188=
XM_017006776.1:c.210A>G	XP_016862265.1:p.Ala70=
XM_017006777.1:c.210A>G	XP_016862266.1:p.Ala70=
XM_017006778.1:c.210A>G	XP_016862267.1:p.Ala70=
XM_017006779.1:c.210A>G	XP_016862268.1:p.Ala70=
XM_017006780.1:c.210A>G	XP_016862269.1:p.Ala70=
XM_017006782.1:c.621A>G	XP_016862271.1:p.Ala207=
XM_017006783.1:c.-131A>G	XP_016862272.1:n.-131A>G
XM_017006784.1:c.621A>G	XP_016862273.1:p.Ala207=
XM_017006785.1:c.621A>G	XP_016862274.1:p.Ala207=
XM_017006786.1:c.621A>G	XP_016862275.1:p.Ala207=
XM_024453620.1:c.621A>G	XP_024309388.1:p.Ala207=
XM_024453621.1:c.297A>G	XP_024309389.1:p.Ala99=
XR_001740195.2:n.4790A>G
NM_001080517.3:c.543A>G MANE Select	NP_001073986.1:p.Ala181=
NM_001292043.2:c.210A>G	NP_001278972.1:p.Ala70=
NM_001349451.2:c.210A>G	NP_001336380.1:p.Ala70=