Canonical Allele Identifier: CA351693883

Gene: SETD5

Linked Data

• gnomAD v4: 3-9475799-G-C
• MyVariant Identifiers: chr3:g.9517483G>C (hg19) ; chr3:g.9475799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475799G>C , CM000665.2:g.9475799G>C	GRCh38
NC_000003.11:g.9517483G>C , CM000665.1:g.9517483G>C	GRCh37
NC_000003.10:g.9492483G>C	NCBI36
NG_034132.1:g.83100G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2992G>C
ENST00000682536.1:c.4133G>C	ENSP00000507956.1:p.Ser1378Thr
ENST00000687014.1:n.5026G>C
ENST00000689167.1:n.2417G>C
ENST00000693430.1:n.6279G>C
ENST00000402198.7:c.4037G>C MANE Select	ENSP00000385852.2:p.Ser1346Thr
ENST00000663774.1:c.*4183G>C	ENSP00000499452.1:n.*4183G>C
ENST00000665872.1:c.*4106G>C	ENSP00000499600.1:n.*4106G>C
ENST00000666307.1:c.*4411G>C	ENSP00000499402.1:n.*4411G>C
ENST00000670063.1:c.*4142G>C	ENSP00000499725.1:n.*4142G>C
ENST00000302463.10:c.3743G>C	ENSP00000302028.6:p.Ser1248Thr
ENST00000399686.6:c.2722+643G>C
ENST00000402198.5:c.4037G>C	ENSP00000385852.1:p.Ser1346Thr
ENST00000406341.5:c.4037G>C	ENSP00000383939.1:p.Ser1346Thr
ENST00000407969.5:c.4094G>C	ENSP00000384114.1:p.Ser1365Thr
ENST00000413704.5:c.3073G>C
ENST00000466242.5:n.3378G>C
ENST00000493918.5:n.4201G>C
NM_001080517.2:c.4037G>C	NP_001073986.1:p.Ser1346Thr
NM_001292043.1:c.3743G>C	NP_001278972.1:p.Ser1248Thr
XM_005265301.1:c.4094G>C	XP_005265358.1:p.Ser1365Thr
XM_005265303.1:c.4037G>C	XP_005265360.1:p.Ser1346Thr
XM_011533920.1:c.4211G>C	XP_011532222.1:p.Ser1404Thr
XM_011533921.1:c.4211G>C	XP_011532223.1:p.Ser1404Thr
XM_011533922.1:c.4190G>C	XP_011532224.1:p.Ser1397Thr
XM_011533923.1:c.4190G>C	XP_011532225.1:p.Ser1397Thr
XM_011533924.1:c.4190G>C	XP_011532226.1:p.Ser1397Thr
XM_011533925.1:c.4172G>C	XP_011532227.1:p.Ser1391Thr
XM_011533926.1:c.4154G>C	XP_011532228.1:p.Ser1385Thr
XM_011533927.1:c.4154G>C	XP_011532229.1:p.Ser1385Thr
XM_011533928.1:c.4133G>C	XP_011532230.1:p.Ser1378Thr
XM_011533929.1:c.4115G>C	XP_011532231.1:p.Ser1372Thr
XM_011533930.1:c.4076G>C	XP_011532232.1:p.Ser1359Thr
XM_011533931.1:c.3800G>C	XP_011532233.1:p.Ser1267Thr
XM_011533932.1:c.3761G>C	XP_011532234.1:p.Ser1254Thr
XM_011533933.1:c.3761G>C	XP_011532235.1:p.Ser1254Thr
NM_001349451.1:c.3743G>C	NP_001336380.1:p.Ser1248Thr
XM_011533921.2:c.4211G>C	XP_011532223.1:p.Ser1404Thr
XM_017006767.1:c.4211G>C	XP_016862256.1:p.Ser1404Thr
XM_017006768.2:c.4190G>C	XP_016862257.1:p.Ser1397Thr
XM_017006770.1:c.4154G>C	XP_016862259.1:p.Ser1385Thr
XM_017006771.1:c.4151G>C	XP_016862260.1:p.Ser1384Thr
XM_017006772.1:c.4115G>C	XP_016862261.1:p.Ser1372Thr
XM_017006773.1:c.4115G>C	XP_016862262.1:p.Ser1372Thr
XM_017006774.1:c.4094G>C	XP_016862263.1:p.Ser1365Thr
XM_017006775.1:c.4058G>C	XP_016862264.1:p.Ser1353Thr
XM_017006776.1:c.3800G>C	XP_016862265.1:p.Ser1267Thr
XM_017006777.1:c.3800G>C	XP_016862266.1:p.Ser1267Thr
XM_017006778.1:c.3800G>C	XP_016862267.1:p.Ser1267Thr
XM_017006779.1:c.3761G>C	XP_016862268.1:p.Ser1254Thr
XM_017006780.1:c.3761G>C	XP_016862269.1:p.Ser1254Thr
XM_017006783.1:c.3533G>C	XP_016862272.1:p.Ser1178Thr
XM_024453620.1:c.4172G>C	XP_024309388.1:p.Ser1391Thr
XM_024453621.1:c.3848G>C	XP_024309389.1:p.Ser1283Thr
XR_001740195.2:n.8420G>C
NM_001080517.3:c.4037G>C MANE Select	NP_001073986.1:p.Ser1346Thr
NM_001292043.2:c.3743G>C	NP_001278972.1:p.Ser1248Thr
NM_001349451.2:c.3743G>C	NP_001336380.1:p.Ser1248Thr