Canonical Allele Identifier: CA432528650
Gene: SETD5 HGNC NCBI

Linked Data

gnomAD v4: 3-9475614-C-G
MyVariant Identifiers: chr3:g.9517298C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475614C>G , CM000665.2:g.9475614C>G GRCh38
NC_000003.11:g.9517298C>G , CM000665.1:g.9517298C>G GRCh37
NC_000003.10:g.9492298C>G NCBI36
NG_034132.1:g.82915C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682236.1:n.2807C>G
ENST00000682536.1:c.3948C>G ENSP00000507956.1:p.Pro1316=
ENST00000687014.1:n.4841C>G
ENST00000689167.1:n.2232C>G
ENST00000691925.1:n.6649C>G
ENST00000693430.1:n.6094C>G
ENST00000402198.7:c.3852C>G MANE Select ENSP00000385852.2:p.Pro1284=
ENST00000663774.1:c.*3998C>G ENSP00000499452.1:n.*3998C>G
ENST00000665872.1:c.*3921C>G ENSP00000499600.1:n.*3921C>G
ENST00000666307.1:c.*4226C>G ENSP00000499402.1:n.*4226C>G
ENST00000670063.1:c.*3957C>G ENSP00000499725.1:n.*3957C>G
ENST00000302463.10:c.3558C>G ENSP00000302028.6:p.Pro1186=
ENST00000399686.6:c.2722+458C>G
ENST00000402198.5:c.3852C>G ENSP00000385852.1:p.Pro1284=
ENST00000406341.5:c.3852C>G ENSP00000383939.1:p.Pro1284=
ENST00000407969.5:c.3909C>G ENSP00000384114.1:p.Pro1303=
ENST00000413704.5:c.2888C>G
ENST00000459941.1:n.983C>G
ENST00000466242.5:n.3193C>G
ENST00000466826.1:n.239C>G
ENST00000493918.5:n.4016C>G
NM_001080517.2:c.3852C>G NP_001073986.1:p.Pro1284=
NM_001292043.1:c.3558C>G NP_001278972.1:p.Pro1186=
XM_005265301.1:c.3909C>G XP_005265358.1:p.Pro1303=
XM_005265303.1:c.3852C>G XP_005265360.1:p.Pro1284=
XM_011533920.1:c.4026C>G XP_011532222.1:p.Pro1342=
XM_011533921.1:c.4026C>G XP_011532223.1:p.Pro1342=
XM_011533922.1:c.4005C>G XP_011532224.1:p.Pro1335=
XM_011533923.1:c.4005C>G XP_011532225.1:p.Pro1335=
XM_011533924.1:c.4005C>G XP_011532226.1:p.Pro1335=
XM_011533925.1:c.3987C>G XP_011532227.1:p.Pro1329=
XM_011533926.1:c.3969C>G XP_011532228.1:p.Pro1323=
XM_011533927.1:c.3969C>G XP_011532229.1:p.Pro1323=
XM_011533928.1:c.3948C>G XP_011532230.1:p.Pro1316=
XM_011533929.1:c.3930C>G XP_011532231.1:p.Pro1310=
XM_011533930.1:c.3891C>G XP_011532232.1:p.Pro1297=
XM_011533931.1:c.3615C>G XP_011532233.1:p.Pro1205=
XM_011533932.1:c.3576C>G XP_011532234.1:p.Pro1192=
XM_011533933.1:c.3576C>G XP_011532235.1:p.Pro1192=
NM_001349451.1:c.3558C>G NP_001336380.1:p.Pro1186=
XM_011533921.2:c.4026C>G XP_011532223.1:p.Pro1342=
XM_017006767.1:c.4026C>G XP_016862256.1:p.Pro1342=
XM_017006768.2:c.4005C>G XP_016862257.1:p.Pro1335=
XM_017006770.1:c.3969C>G XP_016862259.1:p.Pro1323=
XM_017006771.1:c.3966C>G XP_016862260.1:p.Pro1322=
XM_017006772.1:c.3930C>G XP_016862261.1:p.Pro1310=
XM_017006773.1:c.3930C>G XP_016862262.1:p.Pro1310=
XM_017006774.1:c.3909C>G XP_016862263.1:p.Pro1303=
XM_017006775.1:c.3873C>G XP_016862264.1:p.Pro1291=
XM_017006776.1:c.3615C>G XP_016862265.1:p.Pro1205=
XM_017006777.1:c.3615C>G XP_016862266.1:p.Pro1205=
XM_017006778.1:c.3615C>G XP_016862267.1:p.Pro1205=
XM_017006779.1:c.3576C>G XP_016862268.1:p.Pro1192=
XM_017006780.1:c.3576C>G XP_016862269.1:p.Pro1192=
XM_017006783.1:c.3348C>G XP_016862272.1:p.Pro1116=
XM_024453620.1:c.3987C>G XP_024309388.1:p.Pro1329=
XM_024453621.1:c.3663C>G XP_024309389.1:p.Pro1221=
XR_001740195.2:n.8235C>G
NM_001080517.3:c.3852C>G MANE Select NP_001073986.1:p.Pro1284=
NM_001292043.2:c.3558C>G NP_001278972.1:p.Pro1186=
NM_001349451.2:c.3558C>G NP_001336380.1:p.Pro1186=