Canonical Allele Identifier: CA2239817

Gene: SETD5

Linked Data

• dbSNP Id: rs376768374
• ExAC: 3:9517300 C / G
• gnomAD v2: 3-9517300-C-G
• gnomAD v3: 3-9475616-C-G
• gnomAD v4: 3-9475616-C-G
• MyVariant Identifiers: chr3:g.9517300C>G (hg19) ; chr3:g.9475616C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475616C>G , CM000665.2:g.9475616C>G	GRCh38
NC_000003.11:g.9517300C>G , CM000665.1:g.9517300C>G	GRCh37
NC_000003.10:g.9492300C>G	NCBI36
NG_034132.1:g.82917C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.2809C>G
ENST00000682536.1:c.3950C>G	ENSP00000507956.1:p.Pro1317Arg
ENST00000687014.1:n.4843C>G
ENST00000689167.1:n.2234C>G
ENST00000691925.1:n.6651C>G
ENST00000693430.1:n.6096C>G
ENST00000402198.7:c.3854C>G MANE Select	ENSP00000385852.2:p.Pro1285Arg
ENST00000663774.1:c.*4000C>G	ENSP00000499452.1:n.*4000C>G
ENST00000665872.1:c.*3923C>G	ENSP00000499600.1:n.*3923C>G
ENST00000666307.1:c.*4228C>G	ENSP00000499402.1:n.*4228C>G
ENST00000670063.1:c.*3959C>G	ENSP00000499725.1:n.*3959C>G
ENST00000302463.10:c.3560C>G	ENSP00000302028.6:p.Pro1187Arg
ENST00000399686.6:c.2722+460C>G
ENST00000402198.5:c.3854C>G	ENSP00000385852.1:p.Pro1285Arg
ENST00000406341.5:c.3854C>G	ENSP00000383939.1:p.Pro1285Arg
ENST00000407969.5:c.3911C>G	ENSP00000384114.1:p.Pro1304Arg
ENST00000413704.5:c.2890C>G
ENST00000459941.1:n.985C>G
ENST00000466242.5:n.3195C>G
ENST00000466826.1:n.241C>G
ENST00000493918.5:n.4018C>G
NM_001080517.2:c.3854C>G	NP_001073986.1:p.Pro1285Arg
NM_001292043.1:c.3560C>G	NP_001278972.1:p.Pro1187Arg
XM_005265301.1:c.3911C>G	XP_005265358.1:p.Pro1304Arg
XM_005265303.1:c.3854C>G	XP_005265360.1:p.Pro1285Arg
XM_011533920.1:c.4028C>G	XP_011532222.1:p.Pro1343Arg
XM_011533921.1:c.4028C>G	XP_011532223.1:p.Pro1343Arg
XM_011533922.1:c.4007C>G	XP_011532224.1:p.Pro1336Arg
XM_011533923.1:c.4007C>G	XP_011532225.1:p.Pro1336Arg
XM_011533924.1:c.4007C>G	XP_011532226.1:p.Pro1336Arg
XM_011533925.1:c.3989C>G	XP_011532227.1:p.Pro1330Arg
XM_011533926.1:c.3971C>G	XP_011532228.1:p.Pro1324Arg
XM_011533927.1:c.3971C>G	XP_011532229.1:p.Pro1324Arg
XM_011533928.1:c.3950C>G	XP_011532230.1:p.Pro1317Arg
XM_011533929.1:c.3932C>G	XP_011532231.1:p.Pro1311Arg
XM_011533930.1:c.3893C>G	XP_011532232.1:p.Pro1298Arg
XM_011533931.1:c.3617C>G	XP_011532233.1:p.Pro1206Arg
XM_011533932.1:c.3578C>G	XP_011532234.1:p.Pro1193Arg
XM_011533933.1:c.3578C>G	XP_011532235.1:p.Pro1193Arg
NM_001349451.1:c.3560C>G	NP_001336380.1:p.Pro1187Arg
XM_011533921.2:c.4028C>G	XP_011532223.1:p.Pro1343Arg
XM_017006767.1:c.4028C>G	XP_016862256.1:p.Pro1343Arg
XM_017006768.2:c.4007C>G	XP_016862257.1:p.Pro1336Arg
XM_017006770.1:c.3971C>G	XP_016862259.1:p.Pro1324Arg
XM_017006771.1:c.3968C>G	XP_016862260.1:p.Pro1323Arg
XM_017006772.1:c.3932C>G	XP_016862261.1:p.Pro1311Arg
XM_017006773.1:c.3932C>G	XP_016862262.1:p.Pro1311Arg
XM_017006774.1:c.3911C>G	XP_016862263.1:p.Pro1304Arg
XM_017006775.1:c.3875C>G	XP_016862264.1:p.Pro1292Arg
XM_017006776.1:c.3617C>G	XP_016862265.1:p.Pro1206Arg
XM_017006777.1:c.3617C>G	XP_016862266.1:p.Pro1206Arg
XM_017006778.1:c.3617C>G	XP_016862267.1:p.Pro1206Arg
XM_017006779.1:c.3578C>G	XP_016862268.1:p.Pro1193Arg
XM_017006780.1:c.3578C>G	XP_016862269.1:p.Pro1193Arg
XM_017006783.1:c.3350C>G	XP_016862272.1:p.Pro1117Arg
XM_024453620.1:c.3989C>G	XP_024309388.1:p.Pro1330Arg
XM_024453621.1:c.3665C>G	XP_024309389.1:p.Pro1222Arg
XR_001740195.2:n.8237C>G
NM_001080517.3:c.3854C>G MANE Select	NP_001073986.1:p.Pro1285Arg
NM_001292043.2:c.3560C>G	NP_001278972.1:p.Pro1187Arg
NM_001349451.2:c.3560C>G	NP_001336380.1:p.Pro1187Arg