Canonical Allele Identifier: CA351690948

Gene: SETD5

Linked Data

• ClinVar Variation Id: 1802036
• ClinVar RCV Id: RCV002464855
• dbSNP Id: rs1174149257
• gnomAD v2: 3-9517227-C-G
• gnomAD v4: 3-9475543-C-G
• MyVariant Identifiers: chr3:g.9517227C>G (hg19) ; chr3:g.9475543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475543C>G , CM000665.2:g.9475543C>G	GRCh38
NC_000003.11:g.9517227C>G , CM000665.1:g.9517227C>G	GRCh37
NC_000003.10:g.9492227C>G	NCBI36
NG_034132.1:g.82844C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2736C>G
ENST00000682536.1:c.3877C>G	ENSP00000507956.1:p.Pro1293Ala
ENST00000687014.1:n.4770C>G
ENST00000689167.1:n.2161C>G
ENST00000691925.1:n.6578C>G
ENST00000693430.1:n.6023C>G
ENST00000402198.7:c.3781C>G MANE Select	ENSP00000385852.2:p.Pro1261Ala
ENST00000663774.1:c.*3927C>G	ENSP00000499452.1:n.*3927C>G
ENST00000665872.1:c.*3850C>G	ENSP00000499600.1:n.*3850C>G
ENST00000666307.1:c.*4155C>G	ENSP00000499402.1:n.*4155C>G
ENST00000670063.1:c.*3886C>G	ENSP00000499725.1:n.*3886C>G
ENST00000302463.10:c.3487C>G	ENSP00000302028.6:p.Pro1163Ala
ENST00000399686.6:c.2722+387C>G
ENST00000402198.5:c.3781C>G	ENSP00000385852.1:p.Pro1261Ala
ENST00000406341.5:c.3781C>G	ENSP00000383939.1:p.Pro1261Ala
ENST00000407969.5:c.3838C>G	ENSP00000384114.1:p.Pro1280Ala
ENST00000413704.5:c.2817C>G
ENST00000459941.1:n.912C>G
ENST00000466242.5:n.3122C>G
ENST00000466826.1:n.168C>G
ENST00000493918.5:n.3945C>G
NM_001080517.2:c.3781C>G	NP_001073986.1:p.Pro1261Ala
NM_001292043.1:c.3487C>G	NP_001278972.1:p.Pro1163Ala
XM_005265301.1:c.3838C>G	XP_005265358.1:p.Pro1280Ala
XM_005265303.1:c.3781C>G	XP_005265360.1:p.Pro1261Ala
XM_011533920.1:c.3955C>G	XP_011532222.1:p.Pro1319Ala
XM_011533921.1:c.3955C>G	XP_011532223.1:p.Pro1319Ala
XM_011533922.1:c.3934C>G	XP_011532224.1:p.Pro1312Ala
XM_011533923.1:c.3934C>G	XP_011532225.1:p.Pro1312Ala
XM_011533924.1:c.3934C>G	XP_011532226.1:p.Pro1312Ala
XM_011533925.1:c.3916C>G	XP_011532227.1:p.Pro1306Ala
XM_011533926.1:c.3898C>G	XP_011532228.1:p.Pro1300Ala
XM_011533927.1:c.3898C>G	XP_011532229.1:p.Pro1300Ala
XM_011533928.1:c.3877C>G	XP_011532230.1:p.Pro1293Ala
XM_011533929.1:c.3859C>G	XP_011532231.1:p.Pro1287Ala
XM_011533930.1:c.3820C>G	XP_011532232.1:p.Pro1274Ala
XM_011533931.1:c.3544C>G	XP_011532233.1:p.Pro1182Ala
XM_011533932.1:c.3505C>G	XP_011532234.1:p.Pro1169Ala
XM_011533933.1:c.3505C>G	XP_011532235.1:p.Pro1169Ala
NM_001349451.1:c.3487C>G	NP_001336380.1:p.Pro1163Ala
XM_011533921.2:c.3955C>G	XP_011532223.1:p.Pro1319Ala
XM_017006767.1:c.3955C>G	XP_016862256.1:p.Pro1319Ala
XM_017006768.2:c.3934C>G	XP_016862257.1:p.Pro1312Ala
XM_017006770.1:c.3898C>G	XP_016862259.1:p.Pro1300Ala
XM_017006771.1:c.3895C>G	XP_016862260.1:p.Pro1299Ala
XM_017006772.1:c.3859C>G	XP_016862261.1:p.Pro1287Ala
XM_017006773.1:c.3859C>G	XP_016862262.1:p.Pro1287Ala
XM_017006774.1:c.3838C>G	XP_016862263.1:p.Pro1280Ala
XM_017006775.1:c.3802C>G	XP_016862264.1:p.Pro1268Ala
XM_017006776.1:c.3544C>G	XP_016862265.1:p.Pro1182Ala
XM_017006777.1:c.3544C>G	XP_016862266.1:p.Pro1182Ala
XM_017006778.1:c.3544C>G	XP_016862267.1:p.Pro1182Ala
XM_017006779.1:c.3505C>G	XP_016862268.1:p.Pro1169Ala
XM_017006780.1:c.3505C>G	XP_016862269.1:p.Pro1169Ala
XM_017006783.1:c.3277C>G	XP_016862272.1:p.Pro1093Ala
XM_024453620.1:c.3916C>G	XP_024309388.1:p.Pro1306Ala
XM_024453621.1:c.3592C>G	XP_024309389.1:p.Pro1198Ala
XR_001740195.2:n.8164C>G
NM_001080517.3:c.3781C>G MANE Select	NP_001073986.1:p.Pro1261Ala
NM_001292043.2:c.3487C>G	NP_001278972.1:p.Pro1163Ala
NM_001349451.2:c.3487C>G	NP_001336380.1:p.Pro1163Ala