Canonical Allele Identifier: CA432528455

Gene: SETD5

Linked Data

• gnomAD v4: 3-9475557-T-C
• MyVariant Identifiers: chr3:g.9517241T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475557T>C , CM000665.2:g.9475557T>C	GRCh38
NC_000003.11:g.9517241T>C , CM000665.1:g.9517241T>C	GRCh37
NC_000003.10:g.9492241T>C	NCBI36
NG_034132.1:g.82858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2750T>C
ENST00000682536.1:c.3891T>C	ENSP00000507956.1:p.His1297=
ENST00000687014.1:n.4784T>C
ENST00000689167.1:n.2175T>C
ENST00000691925.1:n.6592T>C
ENST00000693430.1:n.6037T>C
ENST00000402198.7:c.3795T>C MANE Select	ENSP00000385852.2:p.His1265=
ENST00000663774.1:c.*3941T>C	ENSP00000499452.1:n.*3941T>C
ENST00000665872.1:c.*3864T>C	ENSP00000499600.1:n.*3864T>C
ENST00000666307.1:c.*4169T>C	ENSP00000499402.1:n.*4169T>C
ENST00000670063.1:c.*3900T>C	ENSP00000499725.1:n.*3900T>C
ENST00000302463.10:c.3501T>C	ENSP00000302028.6:p.His1167=
ENST00000399686.6:c.2722+401T>C
ENST00000402198.5:c.3795T>C	ENSP00000385852.1:p.His1265=
ENST00000406341.5:c.3795T>C	ENSP00000383939.1:p.His1265=
ENST00000407969.5:c.3852T>C	ENSP00000384114.1:p.His1284=
ENST00000413704.5:c.2831T>C
ENST00000459941.1:n.926T>C
ENST00000466242.5:n.3136T>C
ENST00000466826.1:n.182T>C
ENST00000493918.5:n.3959T>C
NM_001080517.2:c.3795T>C	NP_001073986.1:p.His1265=
NM_001292043.1:c.3501T>C	NP_001278972.1:p.His1167=
XM_005265301.1:c.3852T>C	XP_005265358.1:p.His1284=
XM_005265303.1:c.3795T>C	XP_005265360.1:p.His1265=
XM_011533920.1:c.3969T>C	XP_011532222.1:p.His1323=
XM_011533921.1:c.3969T>C	XP_011532223.1:p.His1323=
XM_011533922.1:c.3948T>C	XP_011532224.1:p.His1316=
XM_011533923.1:c.3948T>C	XP_011532225.1:p.His1316=
XM_011533924.1:c.3948T>C	XP_011532226.1:p.His1316=
XM_011533925.1:c.3930T>C	XP_011532227.1:p.His1310=
XM_011533926.1:c.3912T>C	XP_011532228.1:p.His1304=
XM_011533927.1:c.3912T>C	XP_011532229.1:p.His1304=
XM_011533928.1:c.3891T>C	XP_011532230.1:p.His1297=
XM_011533929.1:c.3873T>C	XP_011532231.1:p.His1291=
XM_011533930.1:c.3834T>C	XP_011532232.1:p.His1278=
XM_011533931.1:c.3558T>C	XP_011532233.1:p.His1186=
XM_011533932.1:c.3519T>C	XP_011532234.1:p.His1173=
XM_011533933.1:c.3519T>C	XP_011532235.1:p.His1173=
NM_001349451.1:c.3501T>C	NP_001336380.1:p.His1167=
XM_011533921.2:c.3969T>C	XP_011532223.1:p.His1323=
XM_017006767.1:c.3969T>C	XP_016862256.1:p.His1323=
XM_017006768.2:c.3948T>C	XP_016862257.1:p.His1316=
XM_017006770.1:c.3912T>C	XP_016862259.1:p.His1304=
XM_017006771.1:c.3909T>C	XP_016862260.1:p.His1303=
XM_017006772.1:c.3873T>C	XP_016862261.1:p.His1291=
XM_017006773.1:c.3873T>C	XP_016862262.1:p.His1291=
XM_017006774.1:c.3852T>C	XP_016862263.1:p.His1284=
XM_017006775.1:c.3816T>C	XP_016862264.1:p.His1272=
XM_017006776.1:c.3558T>C	XP_016862265.1:p.His1186=
XM_017006777.1:c.3558T>C	XP_016862266.1:p.His1186=
XM_017006778.1:c.3558T>C	XP_016862267.1:p.His1186=
XM_017006779.1:c.3519T>C	XP_016862268.1:p.His1173=
XM_017006780.1:c.3519T>C	XP_016862269.1:p.His1173=
XM_017006783.1:c.3291T>C	XP_016862272.1:p.His1097=
XM_024453620.1:c.3930T>C	XP_024309388.1:p.His1310=
XM_024453621.1:c.3606T>C	XP_024309389.1:p.His1202=
XR_001740195.2:n.8178T>C
NM_001080517.3:c.3795T>C MANE Select	NP_001073986.1:p.His1265=
NM_001292043.2:c.3501T>C	NP_001278972.1:p.His1167=
NM_001349451.2:c.3501T>C	NP_001336380.1:p.His1167=