Canonical Allele Identifier: CA432528534

Gene: SETD5

Linked Data

• gnomAD v4: 3-9475788-T-C
• MyVariant Identifiers: chr3:g.9517472T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475788T>C , CM000665.2:g.9475788T>C	GRCh38
NC_000003.11:g.9517472T>C , CM000665.1:g.9517472T>C	GRCh37
NC_000003.10:g.9492472T>C	NCBI36
NG_034132.1:g.83089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2981T>C
ENST00000682536.1:c.4122T>C	ENSP00000507956.1:p.Ser1374=
ENST00000687014.1:n.5015T>C
ENST00000689167.1:n.2406T>C
ENST00000693430.1:n.6268T>C
ENST00000402198.7:c.4026T>C MANE Select	ENSP00000385852.2:p.Ser1342=
ENST00000663774.1:c.*4172T>C	ENSP00000499452.1:n.*4172T>C
ENST00000665872.1:c.*4095T>C	ENSP00000499600.1:n.*4095T>C
ENST00000666307.1:c.*4400T>C	ENSP00000499402.1:n.*4400T>C
ENST00000670063.1:c.*4131T>C	ENSP00000499725.1:n.*4131T>C
ENST00000302463.10:c.3732T>C	ENSP00000302028.6:p.Ser1244=
ENST00000399686.6:c.2722+632T>C
ENST00000402198.5:c.4026T>C	ENSP00000385852.1:p.Ser1342=
ENST00000406341.5:c.4026T>C	ENSP00000383939.1:p.Ser1342=
ENST00000407969.5:c.4083T>C	ENSP00000384114.1:p.Ser1361=
ENST00000413704.5:c.3062T>C
ENST00000466242.5:n.3367T>C
ENST00000493918.5:n.4190T>C
NM_001080517.2:c.4026T>C	NP_001073986.1:p.Ser1342=
NM_001292043.1:c.3732T>C	NP_001278972.1:p.Ser1244=
XM_005265301.1:c.4083T>C	XP_005265358.1:p.Ser1361=
XM_005265303.1:c.4026T>C	XP_005265360.1:p.Ser1342=
XM_011533920.1:c.4200T>C	XP_011532222.1:p.Ser1400=
XM_011533921.1:c.4200T>C	XP_011532223.1:p.Ser1400=
XM_011533922.1:c.4179T>C	XP_011532224.1:p.Ser1393=
XM_011533923.1:c.4179T>C	XP_011532225.1:p.Ser1393=
XM_011533924.1:c.4179T>C	XP_011532226.1:p.Ser1393=
XM_011533925.1:c.4161T>C	XP_011532227.1:p.Ser1387=
XM_011533926.1:c.4143T>C	XP_011532228.1:p.Ser1381=
XM_011533927.1:c.4143T>C	XP_011532229.1:p.Ser1381=
XM_011533928.1:c.4122T>C	XP_011532230.1:p.Ser1374=
XM_011533929.1:c.4104T>C	XP_011532231.1:p.Ser1368=
XM_011533930.1:c.4065T>C	XP_011532232.1:p.Ser1355=
XM_011533931.1:c.3789T>C	XP_011532233.1:p.Ser1263=
XM_011533932.1:c.3750T>C	XP_011532234.1:p.Ser1250=
XM_011533933.1:c.3750T>C	XP_011532235.1:p.Ser1250=
NM_001349451.1:c.3732T>C	NP_001336380.1:p.Ser1244=
XM_011533921.2:c.4200T>C	XP_011532223.1:p.Ser1400=
XM_017006767.1:c.4200T>C	XP_016862256.1:p.Ser1400=
XM_017006768.2:c.4179T>C	XP_016862257.1:p.Ser1393=
XM_017006770.1:c.4143T>C	XP_016862259.1:p.Ser1381=
XM_017006771.1:c.4140T>C	XP_016862260.1:p.Ser1380=
XM_017006772.1:c.4104T>C	XP_016862261.1:p.Ser1368=
XM_017006773.1:c.4104T>C	XP_016862262.1:p.Ser1368=
XM_017006774.1:c.4083T>C	XP_016862263.1:p.Ser1361=
XM_017006775.1:c.4047T>C	XP_016862264.1:p.Ser1349=
XM_017006776.1:c.3789T>C	XP_016862265.1:p.Ser1263=
XM_017006777.1:c.3789T>C	XP_016862266.1:p.Ser1263=
XM_017006778.1:c.3789T>C	XP_016862267.1:p.Ser1263=
XM_017006779.1:c.3750T>C	XP_016862268.1:p.Ser1250=
XM_017006780.1:c.3750T>C	XP_016862269.1:p.Ser1250=
XM_017006783.1:c.3522T>C	XP_016862272.1:p.Ser1174=
XM_024453620.1:c.4161T>C	XP_024309388.1:p.Ser1387=
XM_024453621.1:c.3837T>C	XP_024309389.1:p.Ser1279=
XR_001740195.2:n.8409T>C
NM_001080517.3:c.4026T>C MANE Select	NP_001073986.1:p.Ser1342=
NM_001292043.2:c.3732T>C	NP_001278972.1:p.Ser1244=
NM_001349451.2:c.3732T>C	NP_001336380.1:p.Ser1244=