Canonical Allele Identifier: CA2239816

Gene: SETD5

Linked Data

• dbSNP Id: rs372152804
• ExAC: 3:9517299 C / T
• gnomAD v2: 3-9517299-C-T
• gnomAD v3: 3-9475615-C-T
• gnomAD v4: 3-9475615-C-T
• MyVariant Identifiers: chr3:g.9517299C>T (hg19) ; chr3:g.9475615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475615C>T , CM000665.2:g.9475615C>T	GRCh38
NC_000003.11:g.9517299C>T , CM000665.1:g.9517299C>T	GRCh37
NC_000003.10:g.9492299C>T	NCBI36
NG_034132.1:g.82916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.2808C>T
ENST00000682536.1:c.3949C>T	ENSP00000507956.1:p.Pro1317Ser
ENST00000687014.1:n.4842C>T
ENST00000689167.1:n.2233C>T
ENST00000691925.1:n.6650C>T
ENST00000693430.1:n.6095C>T
ENST00000402198.7:c.3853C>T MANE Select	ENSP00000385852.2:p.Pro1285Ser
ENST00000663774.1:c.*3999C>T	ENSP00000499452.1:n.*3999C>T
ENST00000665872.1:c.*3922C>T	ENSP00000499600.1:n.*3922C>T
ENST00000666307.1:c.*4227C>T	ENSP00000499402.1:n.*4227C>T
ENST00000670063.1:c.*3958C>T	ENSP00000499725.1:n.*3958C>T
ENST00000302463.10:c.3559C>T	ENSP00000302028.6:p.Pro1187Ser
ENST00000399686.6:c.2722+459C>T
ENST00000402198.5:c.3853C>T	ENSP00000385852.1:p.Pro1285Ser
ENST00000406341.5:c.3853C>T	ENSP00000383939.1:p.Pro1285Ser
ENST00000407969.5:c.3910C>T	ENSP00000384114.1:p.Pro1304Ser
ENST00000413704.5:c.2889C>T
ENST00000459941.1:n.984C>T
ENST00000466242.5:n.3194C>T
ENST00000466826.1:n.240C>T
ENST00000493918.5:n.4017C>T
NM_001080517.2:c.3853C>T	NP_001073986.1:p.Pro1285Ser
NM_001292043.1:c.3559C>T	NP_001278972.1:p.Pro1187Ser
XM_005265301.1:c.3910C>T	XP_005265358.1:p.Pro1304Ser
XM_005265303.1:c.3853C>T	XP_005265360.1:p.Pro1285Ser
XM_011533920.1:c.4027C>T	XP_011532222.1:p.Pro1343Ser
XM_011533921.1:c.4027C>T	XP_011532223.1:p.Pro1343Ser
XM_011533922.1:c.4006C>T	XP_011532224.1:p.Pro1336Ser
XM_011533923.1:c.4006C>T	XP_011532225.1:p.Pro1336Ser
XM_011533924.1:c.4006C>T	XP_011532226.1:p.Pro1336Ser
XM_011533925.1:c.3988C>T	XP_011532227.1:p.Pro1330Ser
XM_011533926.1:c.3970C>T	XP_011532228.1:p.Pro1324Ser
XM_011533927.1:c.3970C>T	XP_011532229.1:p.Pro1324Ser
XM_011533928.1:c.3949C>T	XP_011532230.1:p.Pro1317Ser
XM_011533929.1:c.3931C>T	XP_011532231.1:p.Pro1311Ser
XM_011533930.1:c.3892C>T	XP_011532232.1:p.Pro1298Ser
XM_011533931.1:c.3616C>T	XP_011532233.1:p.Pro1206Ser
XM_011533932.1:c.3577C>T	XP_011532234.1:p.Pro1193Ser
XM_011533933.1:c.3577C>T	XP_011532235.1:p.Pro1193Ser
NM_001349451.1:c.3559C>T	NP_001336380.1:p.Pro1187Ser
XM_011533921.2:c.4027C>T	XP_011532223.1:p.Pro1343Ser
XM_017006767.1:c.4027C>T	XP_016862256.1:p.Pro1343Ser
XM_017006768.2:c.4006C>T	XP_016862257.1:p.Pro1336Ser
XM_017006770.1:c.3970C>T	XP_016862259.1:p.Pro1324Ser
XM_017006771.1:c.3967C>T	XP_016862260.1:p.Pro1323Ser
XM_017006772.1:c.3931C>T	XP_016862261.1:p.Pro1311Ser
XM_017006773.1:c.3931C>T	XP_016862262.1:p.Pro1311Ser
XM_017006774.1:c.3910C>T	XP_016862263.1:p.Pro1304Ser
XM_017006775.1:c.3874C>T	XP_016862264.1:p.Pro1292Ser
XM_017006776.1:c.3616C>T	XP_016862265.1:p.Pro1206Ser
XM_017006777.1:c.3616C>T	XP_016862266.1:p.Pro1206Ser
XM_017006778.1:c.3616C>T	XP_016862267.1:p.Pro1206Ser
XM_017006779.1:c.3577C>T	XP_016862268.1:p.Pro1193Ser
XM_017006780.1:c.3577C>T	XP_016862269.1:p.Pro1193Ser
XM_017006783.1:c.3349C>T	XP_016862272.1:p.Pro1117Ser
XM_024453620.1:c.3988C>T	XP_024309388.1:p.Pro1330Ser
XM_024453621.1:c.3664C>T	XP_024309389.1:p.Pro1222Ser
XR_001740195.2:n.8236C>T
NM_001080517.3:c.3853C>T MANE Select	NP_001073986.1:p.Pro1285Ser
NM_001292043.2:c.3559C>T	NP_001278972.1:p.Pro1187Ser
NM_001349451.2:c.3559C>T	NP_001336380.1:p.Pro1187Ser