Canonical Allele Identifier: CA351690734

Gene: SETD5

Linked Data

• dbSNP Id: rs1201557692
• gnomAD v2: 3-9517194-G-A
• gnomAD v4: 3-9475510-G-A
• MyVariant Identifiers: chr3:g.9517194G>A (hg19) ; chr3:g.9475510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475510G>A , CM000665.2:g.9475510G>A	GRCh38
NC_000003.11:g.9517194G>A , CM000665.1:g.9517194G>A	GRCh37
NC_000003.10:g.9492194G>A	NCBI36
NG_034132.1:g.82811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2703G>A
ENST00000682536.1:c.3844G>A	ENSP00000507956.1:p.Glu1282Lys
ENST00000687014.1:n.4737G>A
ENST00000689167.1:n.2128G>A
ENST00000691925.1:n.6545G>A
ENST00000693430.1:n.5990G>A
ENST00000402198.7:c.3748G>A MANE Select	ENSP00000385852.2:p.Glu1250Lys
ENST00000663774.1:c.*3894G>A	ENSP00000499452.1:n.*3894G>A
ENST00000665872.1:c.*3817G>A	ENSP00000499600.1:n.*3817G>A
ENST00000666307.1:c.*4122G>A	ENSP00000499402.1:n.*4122G>A
ENST00000670063.1:c.*3853G>A	ENSP00000499725.1:n.*3853G>A
ENST00000302463.10:c.3454G>A	ENSP00000302028.6:p.Glu1152Lys
ENST00000399686.6:c.2722+354G>A
ENST00000402198.5:c.3748G>A	ENSP00000385852.1:p.Glu1250Lys
ENST00000406341.5:c.3748G>A	ENSP00000383939.1:p.Glu1250Lys
ENST00000407969.5:c.3805G>A	ENSP00000384114.1:p.Glu1269Lys
ENST00000413704.5:c.2784G>A
ENST00000459941.1:n.879G>A
ENST00000466242.5:n.3089G>A
ENST00000466826.1:n.135G>A
ENST00000493918.5:n.3912G>A
NM_001080517.2:c.3748G>A	NP_001073986.1:p.Glu1250Lys
NM_001292043.1:c.3454G>A	NP_001278972.1:p.Glu1152Lys
XM_005265301.1:c.3805G>A	XP_005265358.1:p.Glu1269Lys
XM_005265303.1:c.3748G>A	XP_005265360.1:p.Glu1250Lys
XM_011533920.1:c.3922G>A	XP_011532222.1:p.Glu1308Lys
XM_011533921.1:c.3922G>A	XP_011532223.1:p.Glu1308Lys
XM_011533922.1:c.3901G>A	XP_011532224.1:p.Glu1301Lys
XM_011533923.1:c.3901G>A	XP_011532225.1:p.Glu1301Lys
XM_011533924.1:c.3901G>A	XP_011532226.1:p.Glu1301Lys
XM_011533925.1:c.3883G>A	XP_011532227.1:p.Glu1295Lys
XM_011533926.1:c.3865G>A	XP_011532228.1:p.Glu1289Lys
XM_011533927.1:c.3865G>A	XP_011532229.1:p.Glu1289Lys
XM_011533928.1:c.3844G>A	XP_011532230.1:p.Glu1282Lys
XM_011533929.1:c.3826G>A	XP_011532231.1:p.Glu1276Lys
XM_011533930.1:c.3787G>A	XP_011532232.1:p.Glu1263Lys
XM_011533931.1:c.3511G>A	XP_011532233.1:p.Glu1171Lys
XM_011533932.1:c.3472G>A	XP_011532234.1:p.Glu1158Lys
XM_011533933.1:c.3472G>A	XP_011532235.1:p.Glu1158Lys
NM_001349451.1:c.3454G>A	NP_001336380.1:p.Glu1152Lys
XM_011533921.2:c.3922G>A	XP_011532223.1:p.Glu1308Lys
XM_017006767.1:c.3922G>A	XP_016862256.1:p.Glu1308Lys
XM_017006768.2:c.3901G>A	XP_016862257.1:p.Glu1301Lys
XM_017006770.1:c.3865G>A	XP_016862259.1:p.Glu1289Lys
XM_017006771.1:c.3862G>A	XP_016862260.1:p.Glu1288Lys
XM_017006772.1:c.3826G>A	XP_016862261.1:p.Glu1276Lys
XM_017006773.1:c.3826G>A	XP_016862262.1:p.Glu1276Lys
XM_017006774.1:c.3805G>A	XP_016862263.1:p.Glu1269Lys
XM_017006775.1:c.3769G>A	XP_016862264.1:p.Glu1257Lys
XM_017006776.1:c.3511G>A	XP_016862265.1:p.Glu1171Lys
XM_017006777.1:c.3511G>A	XP_016862266.1:p.Glu1171Lys
XM_017006778.1:c.3511G>A	XP_016862267.1:p.Glu1171Lys
XM_017006779.1:c.3472G>A	XP_016862268.1:p.Glu1158Lys
XM_017006780.1:c.3472G>A	XP_016862269.1:p.Glu1158Lys
XM_017006783.1:c.3244G>A	XP_016862272.1:p.Glu1082Lys
XM_024453620.1:c.3883G>A	XP_024309388.1:p.Glu1295Lys
XM_024453621.1:c.3559G>A	XP_024309389.1:p.Glu1187Lys
XR_001740195.2:n.8131G>A
NM_001080517.3:c.3748G>A MANE Select	NP_001073986.1:p.Glu1250Lys
NM_001292043.2:c.3454G>A	NP_001278972.1:p.Glu1152Lys
NM_001349451.2:c.3454G>A	NP_001336380.1:p.Glu1152Lys