Canonical Allele Identifier: CA351692983

Gene: SETD5

Linked Data

• dbSNP Id: rs1433671005
• gnomAD v2: 3-9517396-C-T
• gnomAD v3: 3-9475712-C-T
• gnomAD v4: 3-9475712-C-T
• MyVariant Identifiers: chr3:g.9517396C>T (hg19) ; chr3:g.9475712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475712C>T , CM000665.2:g.9475712C>T	GRCh38
NC_000003.11:g.9517396C>T , CM000665.1:g.9517396C>T	GRCh37
NC_000003.10:g.9492396C>T	NCBI36
NG_034132.1:g.83013C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.2905C>T
ENST00000682536.1:c.4046C>T	ENSP00000507956.1:p.Thr1349Ile
ENST00000687014.1:n.4939C>T
ENST00000689167.1:n.2330C>T
ENST00000693430.1:n.6192C>T
ENST00000402198.7:c.3950C>T MANE Select	ENSP00000385852.2:p.Thr1317Ile
ENST00000663774.1:c.*4096C>T	ENSP00000499452.1:n.*4096C>T
ENST00000665872.1:c.*4019C>T	ENSP00000499600.1:n.*4019C>T
ENST00000666307.1:c.*4324C>T	ENSP00000499402.1:n.*4324C>T
ENST00000670063.1:c.*4055C>T	ENSP00000499725.1:n.*4055C>T
ENST00000302463.10:c.3656C>T	ENSP00000302028.6:p.Thr1219Ile
ENST00000399686.6:c.2722+556C>T
ENST00000402198.5:c.3950C>T	ENSP00000385852.1:p.Thr1317Ile
ENST00000406341.5:c.3950C>T	ENSP00000383939.1:p.Thr1317Ile
ENST00000407969.5:c.4007C>T	ENSP00000384114.1:p.Thr1336Ile
ENST00000413704.5:c.2986C>T
ENST00000466242.5:n.3291C>T
ENST00000493918.5:n.4114C>T
NM_001080517.2:c.3950C>T	NP_001073986.1:p.Thr1317Ile
NM_001292043.1:c.3656C>T	NP_001278972.1:p.Thr1219Ile
XM_005265301.1:c.4007C>T	XP_005265358.1:p.Thr1336Ile
XM_005265303.1:c.3950C>T	XP_005265360.1:p.Thr1317Ile
XM_011533920.1:c.4124C>T	XP_011532222.1:p.Thr1375Ile
XM_011533921.1:c.4124C>T	XP_011532223.1:p.Thr1375Ile
XM_011533922.1:c.4103C>T	XP_011532224.1:p.Thr1368Ile
XM_011533923.1:c.4103C>T	XP_011532225.1:p.Thr1368Ile
XM_011533924.1:c.4103C>T	XP_011532226.1:p.Thr1368Ile
XM_011533925.1:c.4085C>T	XP_011532227.1:p.Thr1362Ile
XM_011533926.1:c.4067C>T	XP_011532228.1:p.Thr1356Ile
XM_011533927.1:c.4067C>T	XP_011532229.1:p.Thr1356Ile
XM_011533928.1:c.4046C>T	XP_011532230.1:p.Thr1349Ile
XM_011533929.1:c.4028C>T	XP_011532231.1:p.Thr1343Ile
XM_011533930.1:c.3989C>T	XP_011532232.1:p.Thr1330Ile
XM_011533931.1:c.3713C>T	XP_011532233.1:p.Thr1238Ile
XM_011533932.1:c.3674C>T	XP_011532234.1:p.Thr1225Ile
XM_011533933.1:c.3674C>T	XP_011532235.1:p.Thr1225Ile
NM_001349451.1:c.3656C>T	NP_001336380.1:p.Thr1219Ile
XM_011533921.2:c.4124C>T	XP_011532223.1:p.Thr1375Ile
XM_017006767.1:c.4124C>T	XP_016862256.1:p.Thr1375Ile
XM_017006768.2:c.4103C>T	XP_016862257.1:p.Thr1368Ile
XM_017006770.1:c.4067C>T	XP_016862259.1:p.Thr1356Ile
XM_017006771.1:c.4064C>T	XP_016862260.1:p.Thr1355Ile
XM_017006772.1:c.4028C>T	XP_016862261.1:p.Thr1343Ile
XM_017006773.1:c.4028C>T	XP_016862262.1:p.Thr1343Ile
XM_017006774.1:c.4007C>T	XP_016862263.1:p.Thr1336Ile
XM_017006775.1:c.3971C>T	XP_016862264.1:p.Thr1324Ile
XM_017006776.1:c.3713C>T	XP_016862265.1:p.Thr1238Ile
XM_017006777.1:c.3713C>T	XP_016862266.1:p.Thr1238Ile
XM_017006778.1:c.3713C>T	XP_016862267.1:p.Thr1238Ile
XM_017006779.1:c.3674C>T	XP_016862268.1:p.Thr1225Ile
XM_017006780.1:c.3674C>T	XP_016862269.1:p.Thr1225Ile
XM_017006783.1:c.3446C>T	XP_016862272.1:p.Thr1149Ile
XM_024453620.1:c.4085C>T	XP_024309388.1:p.Thr1362Ile
XM_024453621.1:c.3761C>T	XP_024309389.1:p.Thr1254Ile
XR_001740195.2:n.8333C>T
NM_001080517.3:c.3950C>T MANE Select	NP_001073986.1:p.Thr1317Ile
NM_001292043.2:c.3656C>T	NP_001278972.1:p.Thr1219Ile
NM_001349451.2:c.3656C>T	NP_001336380.1:p.Thr1219Ile