Canonical Allele Identifier: CA2239785
Gene: SETD5 HGNC NCBI

Linked Data

dbSNP Id: rs374233927
gnomAD v2: 3-9517145-G-A
gnomAD v3: 3-9475461-G-A
gnomAD v4: 3-9475461-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475461G>A , CM000665.2:g.9475461G>A GRCh38
NC_000003.11:g.9517145G>A , CM000665.1:g.9517145G>A GRCh37
NC_000003.10:g.9492145G>A NCBI36
NG_034132.1:g.82762G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682236.1:n.2676-22G>A
ENST00000682536.1:c.3817-22G>A ENSP00000507956.1:n.3817-22G>A
ENST00000687014.1:n.4710-22G>A
ENST00000689167.1:n.2079G>A
ENST00000691925.1:n.6496G>A
ENST00000693430.1:n.5941G>A
ENST00000402198.7:c.3721-22G>A MANE Select ENSP00000385852.2:n.3721-22G>A
ENST00000663774.1:c.*3867-22G>A ENSP00000499452.1:n.*3867-22G>A
ENST00000665872.1:c.*3790-22G>A ENSP00000499600.1:n.*3790-22G>A
ENST00000666307.1:c.*4095-22G>A ENSP00000499402.1:n.*4095-22G>A
ENST00000670063.1:c.*3826-22G>A ENSP00000499725.1:n.*3826-22G>A
ENST00000302463.10:c.3427-22G>A ENSP00000302028.6:n.3427-22G>A
ENST00000399686.6:c.2722+305G>A
ENST00000402198.5:c.3721-22G>A ENSP00000385852.1:n.3721-22G>A
ENST00000406341.5:c.3721-22G>A ENSP00000383939.1:n.3721-22G>A
ENST00000407969.5:c.3778-22G>A ENSP00000384114.1:n.3778-22G>A
ENST00000413704.5:c.2757-22G>A
ENST00000459941.1:n.852-22G>A
ENST00000466242.5:n.3062-22G>A
ENST00000466826.1:n.108-22G>A
ENST00000493918.5:n.3885-22G>A
NM_001080517.2:c.3721-22G>A NP_001073986.1:n.3721-22G>A
NM_001292043.1:c.3427-22G>A NP_001278972.1:n.3427-22G>A
XM_005265301.1:c.3778-22G>A XP_005265358.1:n.3778-22G>A
XM_005265303.1:c.3721-22G>A XP_005265360.1:n.3721-22G>A
XM_011533920.1:c.3895-22G>A XP_011532222.1:n.3895-22G>A
XM_011533921.1:c.3895-22G>A XP_011532223.1:n.3895-22G>A
XM_011533922.1:c.3874-22G>A XP_011532224.1:n.3874-22G>A
XM_011533923.1:c.3874-22G>A XP_011532225.1:n.3874-22G>A
XM_011533924.1:c.3874-22G>A XP_011532226.1:n.3874-22G>A
XM_011533925.1:c.3856-22G>A XP_011532227.1:n.3856-22G>A
XM_011533926.1:c.3838-22G>A XP_011532228.1:n.3838-22G>A
XM_011533927.1:c.3838-22G>A XP_011532229.1:n.3838-22G>A
XM_011533928.1:c.3817-22G>A XP_011532230.1:n.3817-22G>A
XM_011533929.1:c.3799-22G>A XP_011532231.1:n.3799-22G>A
XM_011533930.1:c.3760-22G>A XP_011532232.1:n.3760-22G>A
XM_011533931.1:c.3484-22G>A XP_011532233.1:n.3484-22G>A
XM_011533932.1:c.3445-22G>A XP_011532234.1:n.3445-22G>A
XM_011533933.1:c.3445-22G>A XP_011532235.1:n.3445-22G>A
XM_011533934.1:c.*138G>A XP_011532236.1:n.*138G>A
NM_001349451.1:c.3427-22G>A NP_001336380.1:n.3427-22G>A
XM_011533921.2:c.3895-22G>A XP_011532223.1:n.3895-22G>A
XM_017006767.1:c.3895-22G>A XP_016862256.1:n.3895-22G>A
XM_017006768.2:c.3874-22G>A XP_016862257.1:n.3874-22G>A
XM_017006770.1:c.3838-22G>A XP_016862259.1:n.3838-22G>A
XM_017006771.1:c.3835-22G>A XP_016862260.1:n.3835-22G>A
XM_017006772.1:c.3799-22G>A XP_016862261.1:n.3799-22G>A
XM_017006773.1:c.3799-22G>A XP_016862262.1:n.3799-22G>A
XM_017006774.1:c.3778-22G>A XP_016862263.1:n.3778-22G>A
XM_017006775.1:c.3742-22G>A XP_016862264.1:n.3742-22G>A
XM_017006776.1:c.3484-22G>A XP_016862265.1:n.3484-22G>A
XM_017006777.1:c.3484-22G>A XP_016862266.1:n.3484-22G>A
XM_017006778.1:c.3484-22G>A XP_016862267.1:n.3484-22G>A
XM_017006779.1:c.3445-22G>A XP_016862268.1:n.3445-22G>A
XM_017006780.1:c.3445-22G>A XP_016862269.1:n.3445-22G>A
XM_017006782.1:c.*138G>A XP_016862271.1:n.*138G>A
XM_017006783.1:c.3217-22G>A XP_016862272.1:n.3217-22G>A
XM_024453620.1:c.3856-22G>A XP_024309388.1:n.3856-22G>A
XM_024453621.1:c.3532-22G>A XP_024309389.1:n.3532-22G>A
XR_001740195.2:n.8104-22G>A
NM_001080517.3:c.3721-22G>A MANE Select NP_001073986.1:n.3721-22G>A
NM_001292043.2:c.3427-22G>A NP_001278972.1:n.3427-22G>A
NM_001349451.2:c.3427-22G>A NP_001336380.1:n.3427-22G>A