Canonical Allele Identifier: CA432365750

Gene: SETD5

Linked Data

• gnomAD v4: 3-9473310-A-G
• MyVariant Identifiers: chr3:g.9514994A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473310A>G , CM000665.2:g.9473310A>G	GRCh38
NC_000003.11:g.9514994A>G , CM000665.1:g.9514994A>G	GRCh37
NC_000003.10:g.9489994A>G	NCBI36
NG_034132.1:g.80611A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.1740A>G
ENST00000682536.1:c.3366A>G	ENSP00000507956.1:p.Ala1122=
ENST00000687014.1:n.3774A>G
ENST00000689167.1:n.839A>G
ENST00000691925.1:n.4345A>G
ENST00000693430.1:n.4701A>G
ENST00000402198.7:c.3270A>G MANE Select	ENSP00000385852.2:p.Ala1090=
ENST00000663774.1:c.*3416A>G	ENSP00000499452.1:n.*3416A>G
ENST00000665872.1:c.*3339A>G	ENSP00000499600.1:n.*3339A>G
ENST00000666307.1:c.*3644A>G	ENSP00000499402.1:n.*3644A>G
ENST00000670063.1:c.*3375A>G	ENSP00000499725.1:n.*3375A>G
ENST00000302463.10:c.2976A>G	ENSP00000302028.6:p.Ala992=
ENST00000399686.6:c.2272A>G
ENST00000402198.5:c.3270A>G	ENSP00000385852.1:p.Ala1090=
ENST00000406341.5:c.3270A>G	ENSP00000383939.1:p.Ala1090=
ENST00000407969.5:c.3327A>G	ENSP00000384114.1:p.Ala1109=
ENST00000413704.5:c.2306A>G
ENST00000421188.1:c.1261A>G
ENST00000466242.5:n.2611A>G
ENST00000486465.5:n.338A>G
ENST00000492939.5:n.75A>G
ENST00000493918.5:n.3434A>G
NM_001080517.2:c.3270A>G	NP_001073986.1:p.Ala1090=
NM_001292043.1:c.2976A>G	NP_001278972.1:p.Ala992=
XM_005265301.1:c.3327A>G	XP_005265358.1:p.Ala1109=
XM_005265303.1:c.3270A>G	XP_005265360.1:p.Ala1090=
XM_011533920.1:c.3444A>G	XP_011532222.1:p.Ala1148=
XM_011533921.1:c.3444A>G	XP_011532223.1:p.Ala1148=
XM_011533922.1:c.3423A>G	XP_011532224.1:p.Ala1141=
XM_011533923.1:c.3423A>G	XP_011532225.1:p.Ala1141=
XM_011533924.1:c.3423A>G	XP_011532226.1:p.Ala1141=
XM_011533925.1:c.3405A>G	XP_011532227.1:p.Ala1135=
XM_011533926.1:c.3387A>G	XP_011532228.1:p.Ala1129=
XM_011533927.1:c.3387A>G	XP_011532229.1:p.Ala1129=
XM_011533928.1:c.3366A>G	XP_011532230.1:p.Ala1122=
XM_011533929.1:c.3348A>G	XP_011532231.1:p.Ala1116=
XM_011533930.1:c.3309A>G	XP_011532232.1:p.Ala1103=
XM_011533931.1:c.3033A>G	XP_011532233.1:p.Ala1011=
XM_011533932.1:c.2994A>G	XP_011532234.1:p.Ala998=
XM_011533933.1:c.2994A>G	XP_011532235.1:p.Ala998=
XM_011533934.1:c.3444A>G	XP_011532236.1:p.Ala1148=
NM_001349451.1:c.2976A>G	NP_001336380.1:p.Ala992=
XM_011533921.2:c.3444A>G	XP_011532223.1:p.Ala1148=
XM_017006767.1:c.3444A>G	XP_016862256.1:p.Ala1148=
XM_017006768.2:c.3423A>G	XP_016862257.1:p.Ala1141=
XM_017006770.1:c.3387A>G	XP_016862259.1:p.Ala1129=
XM_017006771.1:c.3384A>G	XP_016862260.1:p.Ala1128=
XM_017006772.1:c.3348A>G	XP_016862261.1:p.Ala1116=
XM_017006773.1:c.3348A>G	XP_016862262.1:p.Ala1116=
XM_017006774.1:c.3327A>G	XP_016862263.1:p.Ala1109=
XM_017006775.1:c.3291A>G	XP_016862264.1:p.Ala1097=
XM_017006776.1:c.3033A>G	XP_016862265.1:p.Ala1011=
XM_017006777.1:c.3033A>G	XP_016862266.1:p.Ala1011=
XM_017006778.1:c.3033A>G	XP_016862267.1:p.Ala1011=
XM_017006779.1:c.2994A>G	XP_016862268.1:p.Ala998=
XM_017006780.1:c.2994A>G	XP_016862269.1:p.Ala998=
XM_017006782.1:c.3444A>G	XP_016862271.1:p.Ala1148=
XM_017006783.1:c.2766A>G	XP_016862272.1:p.Ala922=
XM_024453620.1:c.3405A>G	XP_024309388.1:p.Ala1135=
XM_024453621.1:c.3081A>G	XP_024309389.1:p.Ala1027=
XR_001740195.2:n.7653A>G
NM_001080517.3:c.3270A>G MANE Select	NP_001073986.1:p.Ala1090=
NM_001292043.2:c.2976A>G	NP_001278972.1:p.Ala992=
NM_001349451.2:c.2976A>G	NP_001336380.1:p.Ala992=