Canonical Allele Identifier: CA351692815

Gene: SETD5

Linked Data

• MyVariant Identifiers: chr3:g.9517381C>T (hg19) ; chr3:g.9475697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475697C>T , CM000665.2:g.9475697C>T	GRCh38
NC_000003.11:g.9517381C>T , CM000665.1:g.9517381C>T	GRCh37
NC_000003.10:g.9492381C>T	NCBI36
NG_034132.1:g.82998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2890C>T
ENST00000682536.1:c.4031C>T	ENSP00000507956.1:p.Ala1344Val
ENST00000687014.1:n.4924C>T
ENST00000689167.1:n.2315C>T
ENST00000693430.1:n.6177C>T
ENST00000402198.7:c.3935C>T MANE Select	ENSP00000385852.2:p.Ala1312Val
ENST00000663774.1:c.*4081C>T	ENSP00000499452.1:n.*4081C>T
ENST00000665872.1:c.*4004C>T	ENSP00000499600.1:n.*4004C>T
ENST00000666307.1:c.*4309C>T	ENSP00000499402.1:n.*4309C>T
ENST00000670063.1:c.*4040C>T	ENSP00000499725.1:n.*4040C>T
ENST00000302463.10:c.3641C>T	ENSP00000302028.6:p.Ala1214Val
ENST00000399686.6:c.2722+541C>T
ENST00000402198.5:c.3935C>T	ENSP00000385852.1:p.Ala1312Val
ENST00000406341.5:c.3935C>T	ENSP00000383939.1:p.Ala1312Val
ENST00000407969.5:c.3992C>T	ENSP00000384114.1:p.Ala1331Val
ENST00000413704.5:c.2971C>T
ENST00000459941.1:n.1066C>T
ENST00000466242.5:n.3276C>T
ENST00000493918.5:n.4099C>T
NM_001080517.2:c.3935C>T	NP_001073986.1:p.Ala1312Val
NM_001292043.1:c.3641C>T	NP_001278972.1:p.Ala1214Val
XM_005265301.1:c.3992C>T	XP_005265358.1:p.Ala1331Val
XM_005265303.1:c.3935C>T	XP_005265360.1:p.Ala1312Val
XM_011533920.1:c.4109C>T	XP_011532222.1:p.Ala1370Val
XM_011533921.1:c.4109C>T	XP_011532223.1:p.Ala1370Val
XM_011533922.1:c.4088C>T	XP_011532224.1:p.Ala1363Val
XM_011533923.1:c.4088C>T	XP_011532225.1:p.Ala1363Val
XM_011533924.1:c.4088C>T	XP_011532226.1:p.Ala1363Val
XM_011533925.1:c.4070C>T	XP_011532227.1:p.Ala1357Val
XM_011533926.1:c.4052C>T	XP_011532228.1:p.Ala1351Val
XM_011533927.1:c.4052C>T	XP_011532229.1:p.Ala1351Val
XM_011533928.1:c.4031C>T	XP_011532230.1:p.Ala1344Val
XM_011533929.1:c.4013C>T	XP_011532231.1:p.Ala1338Val
XM_011533930.1:c.3974C>T	XP_011532232.1:p.Ala1325Val
XM_011533931.1:c.3698C>T	XP_011532233.1:p.Ala1233Val
XM_011533932.1:c.3659C>T	XP_011532234.1:p.Ala1220Val
XM_011533933.1:c.3659C>T	XP_011532235.1:p.Ala1220Val
NM_001349451.1:c.3641C>T	NP_001336380.1:p.Ala1214Val
XM_011533921.2:c.4109C>T	XP_011532223.1:p.Ala1370Val
XM_017006767.1:c.4109C>T	XP_016862256.1:p.Ala1370Val
XM_017006768.2:c.4088C>T	XP_016862257.1:p.Ala1363Val
XM_017006770.1:c.4052C>T	XP_016862259.1:p.Ala1351Val
XM_017006771.1:c.4049C>T	XP_016862260.1:p.Ala1350Val
XM_017006772.1:c.4013C>T	XP_016862261.1:p.Ala1338Val
XM_017006773.1:c.4013C>T	XP_016862262.1:p.Ala1338Val
XM_017006774.1:c.3992C>T	XP_016862263.1:p.Ala1331Val
XM_017006775.1:c.3956C>T	XP_016862264.1:p.Ala1319Val
XM_017006776.1:c.3698C>T	XP_016862265.1:p.Ala1233Val
XM_017006777.1:c.3698C>T	XP_016862266.1:p.Ala1233Val
XM_017006778.1:c.3698C>T	XP_016862267.1:p.Ala1233Val
XM_017006779.1:c.3659C>T	XP_016862268.1:p.Ala1220Val
XM_017006780.1:c.3659C>T	XP_016862269.1:p.Ala1220Val
XM_017006783.1:c.3431C>T	XP_016862272.1:p.Ala1144Val
XM_024453620.1:c.4070C>T	XP_024309388.1:p.Ala1357Val
XM_024453621.1:c.3746C>T	XP_024309389.1:p.Ala1249Val
XR_001740195.2:n.8318C>T
NM_001080517.3:c.3935C>T MANE Select	NP_001073986.1:p.Ala1312Val
NM_001292043.2:c.3641C>T	NP_001278972.1:p.Ala1214Val
NM_001349451.2:c.3641C>T	NP_001336380.1:p.Ala1214Val