Canonical Allele Identifier: CA351690922

Gene: SETD5

Linked Data

• dbSNP Id: rs1265829808
• gnomAD v4: 3-9475541-C-A
• MyVariant Identifiers: chr3:g.9517225C>A (hg19) ; chr3:g.9475541C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475541C>A , CM000665.2:g.9475541C>A	GRCh38
NC_000003.11:g.9517225C>A , CM000665.1:g.9517225C>A	GRCh37
NC_000003.10:g.9492225C>A	NCBI36
NG_034132.1:g.82842C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2734C>A
ENST00000682536.1:c.3875C>A	ENSP00000507956.1:p.Ser1292Tyr
ENST00000687014.1:n.4768C>A
ENST00000689167.1:n.2159C>A
ENST00000691925.1:n.6576C>A
ENST00000693430.1:n.6021C>A
ENST00000402198.7:c.3779C>A MANE Select	ENSP00000385852.2:p.Ser1260Tyr
ENST00000663774.1:c.*3925C>A	ENSP00000499452.1:n.*3925C>A
ENST00000665872.1:c.*3848C>A	ENSP00000499600.1:n.*3848C>A
ENST00000666307.1:c.*4153C>A	ENSP00000499402.1:n.*4153C>A
ENST00000670063.1:c.*3884C>A	ENSP00000499725.1:n.*3884C>A
ENST00000302463.10:c.3485C>A	ENSP00000302028.6:p.Ser1162Tyr
ENST00000399686.6:c.2722+385C>A
ENST00000402198.5:c.3779C>A	ENSP00000385852.1:p.Ser1260Tyr
ENST00000406341.5:c.3779C>A	ENSP00000383939.1:p.Ser1260Tyr
ENST00000407969.5:c.3836C>A	ENSP00000384114.1:p.Ser1279Tyr
ENST00000413704.5:c.2815C>A
ENST00000459941.1:n.910C>A
ENST00000466242.5:n.3120C>A
ENST00000466826.1:n.166C>A
ENST00000493918.5:n.3943C>A
NM_001080517.2:c.3779C>A	NP_001073986.1:p.Ser1260Tyr
NM_001292043.1:c.3485C>A	NP_001278972.1:p.Ser1162Tyr
XM_005265301.1:c.3836C>A	XP_005265358.1:p.Ser1279Tyr
XM_005265303.1:c.3779C>A	XP_005265360.1:p.Ser1260Tyr
XM_011533920.1:c.3953C>A	XP_011532222.1:p.Ser1318Tyr
XM_011533921.1:c.3953C>A	XP_011532223.1:p.Ser1318Tyr
XM_011533922.1:c.3932C>A	XP_011532224.1:p.Ser1311Tyr
XM_011533923.1:c.3932C>A	XP_011532225.1:p.Ser1311Tyr
XM_011533924.1:c.3932C>A	XP_011532226.1:p.Ser1311Tyr
XM_011533925.1:c.3914C>A	XP_011532227.1:p.Ser1305Tyr
XM_011533926.1:c.3896C>A	XP_011532228.1:p.Ser1299Tyr
XM_011533927.1:c.3896C>A	XP_011532229.1:p.Ser1299Tyr
XM_011533928.1:c.3875C>A	XP_011532230.1:p.Ser1292Tyr
XM_011533929.1:c.3857C>A	XP_011532231.1:p.Ser1286Tyr
XM_011533930.1:c.3818C>A	XP_011532232.1:p.Ser1273Tyr
XM_011533931.1:c.3542C>A	XP_011532233.1:p.Ser1181Tyr
XM_011533932.1:c.3503C>A	XP_011532234.1:p.Ser1168Tyr
XM_011533933.1:c.3503C>A	XP_011532235.1:p.Ser1168Tyr
NM_001349451.1:c.3485C>A	NP_001336380.1:p.Ser1162Tyr
XM_011533921.2:c.3953C>A	XP_011532223.1:p.Ser1318Tyr
XM_017006767.1:c.3953C>A	XP_016862256.1:p.Ser1318Tyr
XM_017006768.2:c.3932C>A	XP_016862257.1:p.Ser1311Tyr
XM_017006770.1:c.3896C>A	XP_016862259.1:p.Ser1299Tyr
XM_017006771.1:c.3893C>A	XP_016862260.1:p.Ser1298Tyr
XM_017006772.1:c.3857C>A	XP_016862261.1:p.Ser1286Tyr
XM_017006773.1:c.3857C>A	XP_016862262.1:p.Ser1286Tyr
XM_017006774.1:c.3836C>A	XP_016862263.1:p.Ser1279Tyr
XM_017006775.1:c.3800C>A	XP_016862264.1:p.Ser1267Tyr
XM_017006776.1:c.3542C>A	XP_016862265.1:p.Ser1181Tyr
XM_017006777.1:c.3542C>A	XP_016862266.1:p.Ser1181Tyr
XM_017006778.1:c.3542C>A	XP_016862267.1:p.Ser1181Tyr
XM_017006779.1:c.3503C>A	XP_016862268.1:p.Ser1168Tyr
XM_017006780.1:c.3503C>A	XP_016862269.1:p.Ser1168Tyr
XM_017006783.1:c.3275C>A	XP_016862272.1:p.Ser1092Tyr
XM_024453620.1:c.3914C>A	XP_024309388.1:p.Ser1305Tyr
XM_024453621.1:c.3590C>A	XP_024309389.1:p.Ser1197Tyr
XR_001740195.2:n.8162C>A
NM_001080517.3:c.3779C>A MANE Select	NP_001073986.1:p.Ser1260Tyr
NM_001292043.2:c.3485C>A	NP_001278972.1:p.Ser1162Tyr
NM_001349451.2:c.3485C>A	NP_001336380.1:p.Ser1162Tyr