Canonical Allele Identifier: CA351686143

Gene: SETD5

Linked Data

• MyVariant Identifiers: chr3:g.9515112T>A (hg19) ; chr3:g.9473428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473428T>A , CM000665.2:g.9473428T>A	GRCh38
NC_000003.11:g.9515112T>A , CM000665.1:g.9515112T>A	GRCh37
NC_000003.10:g.9490112T>A	NCBI36
NG_034132.1:g.80729T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.1858T>A
ENST00000682536.1:c.3484T>A	ENSP00000507956.1:p.Phe1162Ile
ENST00000687014.1:n.3892T>A
ENST00000689167.1:n.957T>A
ENST00000691925.1:n.4463T>A
ENST00000693430.1:n.4819T>A
ENST00000402198.7:c.3388T>A MANE Select	ENSP00000385852.2:p.Phe1130Ile
ENST00000663774.1:c.*3534T>A	ENSP00000499452.1:n.*3534T>A
ENST00000665872.1:c.*3457T>A	ENSP00000499600.1:n.*3457T>A
ENST00000666307.1:c.*3762T>A	ENSP00000499402.1:n.*3762T>A
ENST00000670063.1:c.*3493T>A	ENSP00000499725.1:n.*3493T>A
ENST00000302463.10:c.3094T>A	ENSP00000302028.6:p.Phe1032Ile
ENST00000399686.6:c.2390T>A
ENST00000402198.5:c.3388T>A	ENSP00000385852.1:p.Phe1130Ile
ENST00000406341.5:c.3388T>A	ENSP00000383939.1:p.Phe1130Ile
ENST00000407969.5:c.3445T>A	ENSP00000384114.1:p.Phe1149Ile
ENST00000413704.5:c.2424T>A
ENST00000459941.1:n.34T>A
ENST00000466242.5:n.2729T>A
ENST00000479538.1:n.6T>A
ENST00000486465.5:n.456T>A
ENST00000492939.5:n.193T>A
ENST00000493918.5:n.3552T>A
NM_001080517.2:c.3388T>A	NP_001073986.1:p.Phe1130Ile
NM_001292043.1:c.3094T>A	NP_001278972.1:p.Phe1032Ile
XM_005265301.1:c.3445T>A	XP_005265358.1:p.Phe1149Ile
XM_005265303.1:c.3388T>A	XP_005265360.1:p.Phe1130Ile
XM_011533920.1:c.3562T>A	XP_011532222.1:p.Phe1188Ile
XM_011533921.1:c.3562T>A	XP_011532223.1:p.Phe1188Ile
XM_011533922.1:c.3541T>A	XP_011532224.1:p.Phe1181Ile
XM_011533923.1:c.3541T>A	XP_011532225.1:p.Phe1181Ile
XM_011533924.1:c.3541T>A	XP_011532226.1:p.Phe1181Ile
XM_011533925.1:c.3523T>A	XP_011532227.1:p.Phe1175Ile
XM_011533926.1:c.3505T>A	XP_011532228.1:p.Phe1169Ile
XM_011533927.1:c.3505T>A	XP_011532229.1:p.Phe1169Ile
XM_011533928.1:c.3484T>A	XP_011532230.1:p.Phe1162Ile
XM_011533929.1:c.3466T>A	XP_011532231.1:p.Phe1156Ile
XM_011533930.1:c.3427T>A	XP_011532232.1:p.Phe1143Ile
XM_011533931.1:c.3151T>A	XP_011532233.1:p.Phe1051Ile
XM_011533932.1:c.3112T>A	XP_011532234.1:p.Phe1038Ile
XM_011533933.1:c.3112T>A	XP_011532235.1:p.Phe1038Ile
XM_011533934.1:c.3562T>A	XP_011532236.1:p.Phe1188Ile
NM_001349451.1:c.3094T>A	NP_001336380.1:p.Phe1032Ile
XM_011533921.2:c.3562T>A	XP_011532223.1:p.Phe1188Ile
XM_017006767.1:c.3562T>A	XP_016862256.1:p.Phe1188Ile
XM_017006768.2:c.3541T>A	XP_016862257.1:p.Phe1181Ile
XM_017006770.1:c.3505T>A	XP_016862259.1:p.Phe1169Ile
XM_017006771.1:c.3502T>A	XP_016862260.1:p.Phe1168Ile
XM_017006772.1:c.3466T>A	XP_016862261.1:p.Phe1156Ile
XM_017006773.1:c.3466T>A	XP_016862262.1:p.Phe1156Ile
XM_017006774.1:c.3445T>A	XP_016862263.1:p.Phe1149Ile
XM_017006775.1:c.3409T>A	XP_016862264.1:p.Phe1137Ile
XM_017006776.1:c.3151T>A	XP_016862265.1:p.Phe1051Ile
XM_017006777.1:c.3151T>A	XP_016862266.1:p.Phe1051Ile
XM_017006778.1:c.3151T>A	XP_016862267.1:p.Phe1051Ile
XM_017006779.1:c.3112T>A	XP_016862268.1:p.Phe1038Ile
XM_017006780.1:c.3112T>A	XP_016862269.1:p.Phe1038Ile
XM_017006782.1:c.3562T>A	XP_016862271.1:p.Phe1188Ile
XM_017006783.1:c.2884T>A	XP_016862272.1:p.Phe962Ile
XM_024453620.1:c.3523T>A	XP_024309388.1:p.Phe1175Ile
XM_024453621.1:c.3199T>A	XP_024309389.1:p.Phe1067Ile
XR_001740195.2:n.7771T>A
NM_001080517.3:c.3388T>A MANE Select	NP_001073986.1:p.Phe1130Ile
NM_001292043.2:c.3094T>A	NP_001278972.1:p.Phe1032Ile
NM_001349451.2:c.3094T>A	NP_001336380.1:p.Phe1032Ile