Canonical Allele Identifier: CA645372715

Gene: SETD5

Linked Data

• ClinVar Variation Id: 432470
• ClinVar RCV Id: RCV000498974
• dbSNP Id: rs1553617359
• MyVariant Identifiers: chr3:g.9476174G>A (hg19) ; chr3:g.9434490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9434490G>A , CM000665.2:g.9434490G>A	GRCh38
NC_000003.11:g.9476174G>A , CM000665.1:g.9476174G>A	GRCh37
NC_000003.10:g.9451174G>A	NCBI36
NG_034132.1:g.41791G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682536.1:c.386+5G>A	ENSP00000507956.1:n.386+5G>A
ENST00000684055.1:c.329+5G>A	ENSP00000507953.1:n.329+5G>A
ENST00000684606.1:c.*452+5G>A	ENSP00000506817.1:n.*452+5G>A
ENST00000688835.1:n.1347+5G>A
ENST00000691175.1:n.1404+5G>A
ENST00000691925.1:n.1404+5G>A
ENST00000692920.1:n.294G>A
ENST00000693430.1:n.1404+5G>A
ENST00000402198.7:c.329+5G>A MANE Select	ENSP00000385852.2:n.329+5G>A
ENST00000663774.1:c.*395+5G>A	ENSP00000499452.1:n.*395+5G>A
ENST00000665872.1:c.*395+5G>A	ENSP00000499600.1:n.*395+5G>A
ENST00000666307.1:c.*588+5G>A	ENSP00000499402.1:n.*588+5G>A
ENST00000670063.1:c.*395+5G>A	ENSP00000499725.1:n.*395+5G>A
ENST00000302463.10:c.-5+5G>A	ENSP00000302028.6:n.-5+5G>A
ENST00000402198.5:c.329+5G>A	ENSP00000385852.1:n.329+5G>A
ENST00000406341.5:c.329+5G>A	ENSP00000383939.1:n.329+5G>A
ENST00000407969.5:c.386+5G>A	ENSP00000384114.1:n.386+5G>A
ENST00000431285.5:c.*645+5G>A	ENSP00000397076.1:n.*645+5G>A
ENST00000442373.5:c.-5+5G>A	ENSP00000408837.1:n.-5+5G>A
ENST00000443339.5:c.*589+5G>A	ENSP00000393221.1:n.*589+5G>A
ENST00000450326.5:c.329+5G>A	ENSP00000413786.1:n.329+5G>A
ENST00000490791.5:n.336+5G>A
ENST00000493918.5:n.493+5G>A
NM_001080517.2:c.329+5G>A	NP_001073986.1:n.329+5G>A
NM_001292043.1:c.-5+5G>A	NP_001278972.1:n.-5+5G>A
XM_005265301.1:c.386+5G>A	XP_005265358.1:n.386+5G>A
XM_005265303.1:c.272+5G>A	XP_005265360.1:n.272+5G>A
XM_011533920.1:c.407+5G>A	XP_011532222.1:n.407+5G>A
XM_011533921.1:c.407+5G>A	XP_011532223.1:n.407+5G>A
XM_011533922.1:c.386+5G>A	XP_011532224.1:n.386+5G>A
XM_011533923.1:c.386+5G>A	XP_011532225.1:n.386+5G>A
XM_011533924.1:c.386+5G>A	XP_011532226.1:n.386+5G>A
XM_011533925.1:c.407+5G>A	XP_011532227.1:n.407+5G>A
XM_011533926.1:c.407+5G>A	XP_011532228.1:n.407+5G>A
XM_011533927.1:c.350+5G>A	XP_011532229.1:n.350+5G>A
XM_011533928.1:c.329+5G>A	XP_011532230.1:n.329+5G>A
XM_011533929.1:c.407+5G>A	XP_011532231.1:n.407+5G>A
XM_011533930.1:c.272+5G>A	XP_011532232.1:n.272+5G>A
XM_011533931.1:c.-46+5G>A	XP_011532233.1:n.-46+5G>A
XM_011533932.1:c.-5+5G>A	XP_011532234.1:n.-5+5G>A
XM_011533933.1:c.-46+5G>A	XP_011532235.1:n.-46+5G>A
XM_011533934.1:c.407+5G>A	XP_011532236.1:n.407+5G>A
XM_011533935.1:c.407+5G>A	XP_011532237.1:n.407+5G>A
XM_011533936.1:c.407+5G>A	XP_011532238.1:n.407+5G>A
NM_001349451.1:c.-46+5G>A	NP_001336380.1:n.-46+5G>A
XM_011533921.2:c.407+5G>A	XP_011532223.1:n.407+5G>A
XM_017006767.1:c.407+5G>A	XP_016862256.1:n.407+5G>A
XM_017006768.2:c.386+5G>A	XP_016862257.1:n.386+5G>A
XM_017006770.1:c.407+5G>A	XP_016862259.1:n.407+5G>A
XM_017006771.1:c.386+5G>A	XP_016862260.1:n.386+5G>A
XM_017006772.1:c.407+5G>A	XP_016862261.1:n.407+5G>A
XM_017006773.1:c.350+5G>A	XP_016862262.1:n.350+5G>A
XM_017006774.1:c.329+5G>A	XP_016862263.1:n.329+5G>A
XM_017006775.1:c.350+5G>A	XP_016862264.1:n.350+5G>A
XM_017006776.1:c.-5+5G>A	XP_016862265.1:n.-5+5G>A
XM_017006777.1:c.-5+5G>A	XP_016862266.1:n.-5+5G>A
XM_017006778.1:c.-46+5G>A	XP_016862267.1:n.-46+5G>A
XM_017006779.1:c.-5+5G>A	XP_016862268.1:n.-5+5G>A
XM_017006780.1:c.-46+5G>A	XP_016862269.1:n.-46+5G>A
XM_017006782.1:c.407+5G>A	XP_016862271.1:n.407+5G>A
XM_017006783.1:c.-345+5G>A	XP_016862272.1:n.-345+5G>A
XM_017006784.1:c.407+5G>A	XP_016862273.1:n.407+5G>A
XM_017006785.1:c.407+5G>A	XP_016862274.1:n.407+5G>A
XM_017006786.1:c.407+5G>A	XP_016862275.1:n.407+5G>A
XM_024453620.1:c.407+5G>A	XP_024309388.1:n.407+5G>A
XM_024453621.1:c.-152+5G>A	XP_024309389.1:n.-152+5G>A
XR_001740195.2:n.4576+5G>A
NM_001080517.3:c.329+5G>A MANE Select	NP_001073986.1:n.329+5G>A
NM_001292043.2:c.-5+5G>A	NP_001278972.1:n.-5+5G>A
NM_001349451.2:c.-46+5G>A	NP_001336380.1:n.-46+5G>A