Canonical Allele Identifier: CA432528777

Gene: SETD5

Linked Data

• dbSNP Id: rs1221149644
• gnomAD v4: 3-9475650-C-T
• MyVariant Identifiers: chr3:g.9517334C>T (hg19) ; chr3:g.9475650C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475650C>T , CM000665.2:g.9475650C>T	GRCh38
NC_000003.11:g.9517334C>T , CM000665.1:g.9517334C>T	GRCh37
NC_000003.10:g.9492334C>T	NCBI36
NG_034132.1:g.82951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2843C>T
ENST00000682536.1:c.3984C>T	ENSP00000507956.1:p.Ser1328=
ENST00000687014.1:n.4877C>T
ENST00000689167.1:n.2268C>T
ENST00000691925.1:n.6685C>T
ENST00000693430.1:n.6130C>T
ENST00000402198.7:c.3888C>T MANE Select	ENSP00000385852.2:p.Ser1296=
ENST00000663774.1:c.*4034C>T	ENSP00000499452.1:n.*4034C>T
ENST00000665872.1:c.*3957C>T	ENSP00000499600.1:n.*3957C>T
ENST00000666307.1:c.*4262C>T	ENSP00000499402.1:n.*4262C>T
ENST00000670063.1:c.*3993C>T	ENSP00000499725.1:n.*3993C>T
ENST00000302463.10:c.3594C>T	ENSP00000302028.6:p.Ser1198=
ENST00000399686.6:c.2722+494C>T
ENST00000402198.5:c.3888C>T	ENSP00000385852.1:p.Ser1296=
ENST00000406341.5:c.3888C>T	ENSP00000383939.1:p.Ser1296=
ENST00000407969.5:c.3945C>T	ENSP00000384114.1:p.Ser1315=
ENST00000413704.5:c.2924C>T
ENST00000459941.1:n.1019C>T
ENST00000466242.5:n.3229C>T
ENST00000466826.1:n.275C>T
ENST00000493918.5:n.4052C>T
NM_001080517.2:c.3888C>T	NP_001073986.1:p.Ser1296=
NM_001292043.1:c.3594C>T	NP_001278972.1:p.Ser1198=
XM_005265301.1:c.3945C>T	XP_005265358.1:p.Ser1315=
XM_005265303.1:c.3888C>T	XP_005265360.1:p.Ser1296=
XM_011533920.1:c.4062C>T	XP_011532222.1:p.Ser1354=
XM_011533921.1:c.4062C>T	XP_011532223.1:p.Ser1354=
XM_011533922.1:c.4041C>T	XP_011532224.1:p.Ser1347=
XM_011533923.1:c.4041C>T	XP_011532225.1:p.Ser1347=
XM_011533924.1:c.4041C>T	XP_011532226.1:p.Ser1347=
XM_011533925.1:c.4023C>T	XP_011532227.1:p.Ser1341=
XM_011533926.1:c.4005C>T	XP_011532228.1:p.Ser1335=
XM_011533927.1:c.4005C>T	XP_011532229.1:p.Ser1335=
XM_011533928.1:c.3984C>T	XP_011532230.1:p.Ser1328=
XM_011533929.1:c.3966C>T	XP_011532231.1:p.Ser1322=
XM_011533930.1:c.3927C>T	XP_011532232.1:p.Ser1309=
XM_011533931.1:c.3651C>T	XP_011532233.1:p.Ser1217=
XM_011533932.1:c.3612C>T	XP_011532234.1:p.Ser1204=
XM_011533933.1:c.3612C>T	XP_011532235.1:p.Ser1204=
NM_001349451.1:c.3594C>T	NP_001336380.1:p.Ser1198=
XM_011533921.2:c.4062C>T	XP_011532223.1:p.Ser1354=
XM_017006767.1:c.4062C>T	XP_016862256.1:p.Ser1354=
XM_017006768.2:c.4041C>T	XP_016862257.1:p.Ser1347=
XM_017006770.1:c.4005C>T	XP_016862259.1:p.Ser1335=
XM_017006771.1:c.4002C>T	XP_016862260.1:p.Ser1334=
XM_017006772.1:c.3966C>T	XP_016862261.1:p.Ser1322=
XM_017006773.1:c.3966C>T	XP_016862262.1:p.Ser1322=
XM_017006774.1:c.3945C>T	XP_016862263.1:p.Ser1315=
XM_017006775.1:c.3909C>T	XP_016862264.1:p.Ser1303=
XM_017006776.1:c.3651C>T	XP_016862265.1:p.Ser1217=
XM_017006777.1:c.3651C>T	XP_016862266.1:p.Ser1217=
XM_017006778.1:c.3651C>T	XP_016862267.1:p.Ser1217=
XM_017006779.1:c.3612C>T	XP_016862268.1:p.Ser1204=
XM_017006780.1:c.3612C>T	XP_016862269.1:p.Ser1204=
XM_017006783.1:c.3384C>T	XP_016862272.1:p.Ser1128=
XM_024453620.1:c.4023C>T	XP_024309388.1:p.Ser1341=
XM_024453621.1:c.3699C>T	XP_024309389.1:p.Ser1233=
XR_001740195.2:n.8271C>T
NM_001080517.3:c.3888C>T MANE Select	NP_001073986.1:p.Ser1296=
NM_001292043.2:c.3594C>T	NP_001278972.1:p.Ser1198=
NM_001349451.2:c.3594C>T	NP_001336380.1:p.Ser1198=