Canonical Allele Identifier: CA351691776

Gene: SETD5

Linked Data

• gnomAD v4: 3-9475624-G-T
• MyVariant Identifiers: chr3:g.9517308G>T (hg19) ; chr3:g.9475624G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475624G>T , CM000665.2:g.9475624G>T	GRCh38
NC_000003.11:g.9517308G>T , CM000665.1:g.9517308G>T	GRCh37
NC_000003.10:g.9492308G>T	NCBI36
NG_034132.1:g.82925G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2817G>T
ENST00000682536.1:c.3958G>T	ENSP00000507956.1:p.Gly1320Cys
ENST00000687014.1:n.4851G>T
ENST00000689167.1:n.2242G>T
ENST00000691925.1:n.6659G>T
ENST00000693430.1:n.6104G>T
ENST00000402198.7:c.3862G>T MANE Select	ENSP00000385852.2:p.Gly1288Cys
ENST00000663774.1:c.*4008G>T	ENSP00000499452.1:n.*4008G>T
ENST00000665872.1:c.*3931G>T	ENSP00000499600.1:n.*3931G>T
ENST00000666307.1:c.*4236G>T	ENSP00000499402.1:n.*4236G>T
ENST00000670063.1:c.*3967G>T	ENSP00000499725.1:n.*3967G>T
ENST00000302463.10:c.3568G>T	ENSP00000302028.6:p.Gly1190Cys
ENST00000399686.6:c.2722+468G>T
ENST00000402198.5:c.3862G>T	ENSP00000385852.1:p.Gly1288Cys
ENST00000406341.5:c.3862G>T	ENSP00000383939.1:p.Gly1288Cys
ENST00000407969.5:c.3919G>T	ENSP00000384114.1:p.Gly1307Cys
ENST00000413704.5:c.2898G>T
ENST00000459941.1:n.993G>T
ENST00000466242.5:n.3203G>T
ENST00000466826.1:n.249G>T
ENST00000493918.5:n.4026G>T
NM_001080517.2:c.3862G>T	NP_001073986.1:p.Gly1288Cys
NM_001292043.1:c.3568G>T	NP_001278972.1:p.Gly1190Cys
XM_005265301.1:c.3919G>T	XP_005265358.1:p.Gly1307Cys
XM_005265303.1:c.3862G>T	XP_005265360.1:p.Gly1288Cys
XM_011533920.1:c.4036G>T	XP_011532222.1:p.Gly1346Cys
XM_011533921.1:c.4036G>T	XP_011532223.1:p.Gly1346Cys
XM_011533922.1:c.4015G>T	XP_011532224.1:p.Gly1339Cys
XM_011533923.1:c.4015G>T	XP_011532225.1:p.Gly1339Cys
XM_011533924.1:c.4015G>T	XP_011532226.1:p.Gly1339Cys
XM_011533925.1:c.3997G>T	XP_011532227.1:p.Gly1333Cys
XM_011533926.1:c.3979G>T	XP_011532228.1:p.Gly1327Cys
XM_011533927.1:c.3979G>T	XP_011532229.1:p.Gly1327Cys
XM_011533928.1:c.3958G>T	XP_011532230.1:p.Gly1320Cys
XM_011533929.1:c.3940G>T	XP_011532231.1:p.Gly1314Cys
XM_011533930.1:c.3901G>T	XP_011532232.1:p.Gly1301Cys
XM_011533931.1:c.3625G>T	XP_011532233.1:p.Gly1209Cys
XM_011533932.1:c.3586G>T	XP_011532234.1:p.Gly1196Cys
XM_011533933.1:c.3586G>T	XP_011532235.1:p.Gly1196Cys
NM_001349451.1:c.3568G>T	NP_001336380.1:p.Gly1190Cys
XM_011533921.2:c.4036G>T	XP_011532223.1:p.Gly1346Cys
XM_017006767.1:c.4036G>T	XP_016862256.1:p.Gly1346Cys
XM_017006768.2:c.4015G>T	XP_016862257.1:p.Gly1339Cys
XM_017006770.1:c.3979G>T	XP_016862259.1:p.Gly1327Cys
XM_017006771.1:c.3976G>T	XP_016862260.1:p.Gly1326Cys
XM_017006772.1:c.3940G>T	XP_016862261.1:p.Gly1314Cys
XM_017006773.1:c.3940G>T	XP_016862262.1:p.Gly1314Cys
XM_017006774.1:c.3919G>T	XP_016862263.1:p.Gly1307Cys
XM_017006775.1:c.3883G>T	XP_016862264.1:p.Gly1295Cys
XM_017006776.1:c.3625G>T	XP_016862265.1:p.Gly1209Cys
XM_017006777.1:c.3625G>T	XP_016862266.1:p.Gly1209Cys
XM_017006778.1:c.3625G>T	XP_016862267.1:p.Gly1209Cys
XM_017006779.1:c.3586G>T	XP_016862268.1:p.Gly1196Cys
XM_017006780.1:c.3586G>T	XP_016862269.1:p.Gly1196Cys
XM_017006783.1:c.3358G>T	XP_016862272.1:p.Gly1120Cys
XM_024453620.1:c.3997G>T	XP_024309388.1:p.Gly1333Cys
XM_024453621.1:c.3673G>T	XP_024309389.1:p.Gly1225Cys
XR_001740195.2:n.8245G>T
NM_001080517.3:c.3862G>T MANE Select	NP_001073986.1:p.Gly1288Cys
NM_001292043.2:c.3568G>T	NP_001278972.1:p.Gly1190Cys
NM_001349451.2:c.3568G>T	NP_001336380.1:p.Gly1190Cys