Canonical Allele Identifier: CA351691176

Gene: SETD5

Linked Data

• dbSNP Id: rs1312280150
• MyVariant Identifiers: chr3:g.9517252C>T (hg19) ; chr3:g.9475568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475568C>T , CM000665.2:g.9475568C>T	GRCh38
NC_000003.11:g.9517252C>T , CM000665.1:g.9517252C>T	GRCh37
NC_000003.10:g.9492252C>T	NCBI36
NG_034132.1:g.82869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2761C>T
ENST00000682536.1:c.3902C>T	ENSP00000507956.1:p.Ser1301Phe
ENST00000687014.1:n.4795C>T
ENST00000689167.1:n.2186C>T
ENST00000691925.1:n.6603C>T
ENST00000693430.1:n.6048C>T
ENST00000402198.7:c.3806C>T MANE Select	ENSP00000385852.2:p.Ser1269Phe
ENST00000663774.1:c.*3952C>T	ENSP00000499452.1:n.*3952C>T
ENST00000665872.1:c.*3875C>T	ENSP00000499600.1:n.*3875C>T
ENST00000666307.1:c.*4180C>T	ENSP00000499402.1:n.*4180C>T
ENST00000670063.1:c.*3911C>T	ENSP00000499725.1:n.*3911C>T
ENST00000302463.10:c.3512C>T	ENSP00000302028.6:p.Ser1171Phe
ENST00000399686.6:c.2722+412C>T
ENST00000402198.5:c.3806C>T	ENSP00000385852.1:p.Ser1269Phe
ENST00000406341.5:c.3806C>T	ENSP00000383939.1:p.Ser1269Phe
ENST00000407969.5:c.3863C>T	ENSP00000384114.1:p.Ser1288Phe
ENST00000413704.5:c.2842C>T
ENST00000459941.1:n.937C>T
ENST00000466242.5:n.3147C>T
ENST00000466826.1:n.193C>T
ENST00000493918.5:n.3970C>T
NM_001080517.2:c.3806C>T	NP_001073986.1:p.Ser1269Phe
NM_001292043.1:c.3512C>T	NP_001278972.1:p.Ser1171Phe
XM_005265301.1:c.3863C>T	XP_005265358.1:p.Ser1288Phe
XM_005265303.1:c.3806C>T	XP_005265360.1:p.Ser1269Phe
XM_011533920.1:c.3980C>T	XP_011532222.1:p.Ser1327Phe
XM_011533921.1:c.3980C>T	XP_011532223.1:p.Ser1327Phe
XM_011533922.1:c.3959C>T	XP_011532224.1:p.Ser1320Phe
XM_011533923.1:c.3959C>T	XP_011532225.1:p.Ser1320Phe
XM_011533924.1:c.3959C>T	XP_011532226.1:p.Ser1320Phe
XM_011533925.1:c.3941C>T	XP_011532227.1:p.Ser1314Phe
XM_011533926.1:c.3923C>T	XP_011532228.1:p.Ser1308Phe
XM_011533927.1:c.3923C>T	XP_011532229.1:p.Ser1308Phe
XM_011533928.1:c.3902C>T	XP_011532230.1:p.Ser1301Phe
XM_011533929.1:c.3884C>T	XP_011532231.1:p.Ser1295Phe
XM_011533930.1:c.3845C>T	XP_011532232.1:p.Ser1282Phe
XM_011533931.1:c.3569C>T	XP_011532233.1:p.Ser1190Phe
XM_011533932.1:c.3530C>T	XP_011532234.1:p.Ser1177Phe
XM_011533933.1:c.3530C>T	XP_011532235.1:p.Ser1177Phe
NM_001349451.1:c.3512C>T	NP_001336380.1:p.Ser1171Phe
XM_011533921.2:c.3980C>T	XP_011532223.1:p.Ser1327Phe
XM_017006767.1:c.3980C>T	XP_016862256.1:p.Ser1327Phe
XM_017006768.2:c.3959C>T	XP_016862257.1:p.Ser1320Phe
XM_017006770.1:c.3923C>T	XP_016862259.1:p.Ser1308Phe
XM_017006771.1:c.3920C>T	XP_016862260.1:p.Ser1307Phe
XM_017006772.1:c.3884C>T	XP_016862261.1:p.Ser1295Phe
XM_017006773.1:c.3884C>T	XP_016862262.1:p.Ser1295Phe
XM_017006774.1:c.3863C>T	XP_016862263.1:p.Ser1288Phe
XM_017006775.1:c.3827C>T	XP_016862264.1:p.Ser1276Phe
XM_017006776.1:c.3569C>T	XP_016862265.1:p.Ser1190Phe
XM_017006777.1:c.3569C>T	XP_016862266.1:p.Ser1190Phe
XM_017006778.1:c.3569C>T	XP_016862267.1:p.Ser1190Phe
XM_017006779.1:c.3530C>T	XP_016862268.1:p.Ser1177Phe
XM_017006780.1:c.3530C>T	XP_016862269.1:p.Ser1177Phe
XM_017006783.1:c.3302C>T	XP_016862272.1:p.Ser1101Phe
XM_024453620.1:c.3941C>T	XP_024309388.1:p.Ser1314Phe
XM_024453621.1:c.3617C>T	XP_024309389.1:p.Ser1206Phe
XR_001740195.2:n.8189C>T
NM_001080517.3:c.3806C>T MANE Select	NP_001073986.1:p.Ser1269Phe
NM_001292043.2:c.3512C>T	NP_001278972.1:p.Ser1171Phe
NM_001349451.2:c.3512C>T	NP_001336380.1:p.Ser1171Phe