Canonical Allele Identifier: CA351691576

Gene: SETD5

Linked Data

• dbSNP Id: rs1189726240
• gnomAD v2: 3-9517294-A-C
• gnomAD v4: 3-9475610-A-C
• MyVariant Identifiers: chr3:g.9517294A>C (hg19) ; chr3:g.9475610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475610A>C , CM000665.2:g.9475610A>C	GRCh38
NC_000003.11:g.9517294A>C , CM000665.1:g.9517294A>C	GRCh37
NC_000003.10:g.9492294A>C	NCBI36
NG_034132.1:g.82911A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2803A>C
ENST00000682536.1:c.3944A>C	ENSP00000507956.1:p.Asn1315Thr
ENST00000687014.1:n.4837A>C
ENST00000689167.1:n.2228A>C
ENST00000691925.1:n.6645A>C
ENST00000693430.1:n.6090A>C
ENST00000402198.7:c.3848A>C MANE Select	ENSP00000385852.2:p.Asn1283Thr
ENST00000663774.1:c.*3994A>C	ENSP00000499452.1:n.*3994A>C
ENST00000665872.1:c.*3917A>C	ENSP00000499600.1:n.*3917A>C
ENST00000666307.1:c.*4222A>C	ENSP00000499402.1:n.*4222A>C
ENST00000670063.1:c.*3953A>C	ENSP00000499725.1:n.*3953A>C
ENST00000302463.10:c.3554A>C	ENSP00000302028.6:p.Asn1185Thr
ENST00000399686.6:c.2722+454A>C
ENST00000402198.5:c.3848A>C	ENSP00000385852.1:p.Asn1283Thr
ENST00000406341.5:c.3848A>C	ENSP00000383939.1:p.Asn1283Thr
ENST00000407969.5:c.3905A>C	ENSP00000384114.1:p.Asn1302Thr
ENST00000413704.5:c.2884A>C
ENST00000459941.1:n.979A>C
ENST00000466242.5:n.3189A>C
ENST00000466826.1:n.235A>C
ENST00000493918.5:n.4012A>C
NM_001080517.2:c.3848A>C	NP_001073986.1:p.Asn1283Thr
NM_001292043.1:c.3554A>C	NP_001278972.1:p.Asn1185Thr
XM_005265301.1:c.3905A>C	XP_005265358.1:p.Asn1302Thr
XM_005265303.1:c.3848A>C	XP_005265360.1:p.Asn1283Thr
XM_011533920.1:c.4022A>C	XP_011532222.1:p.Asn1341Thr
XM_011533921.1:c.4022A>C	XP_011532223.1:p.Asn1341Thr
XM_011533922.1:c.4001A>C	XP_011532224.1:p.Asn1334Thr
XM_011533923.1:c.4001A>C	XP_011532225.1:p.Asn1334Thr
XM_011533924.1:c.4001A>C	XP_011532226.1:p.Asn1334Thr
XM_011533925.1:c.3983A>C	XP_011532227.1:p.Asn1328Thr
XM_011533926.1:c.3965A>C	XP_011532228.1:p.Asn1322Thr
XM_011533927.1:c.3965A>C	XP_011532229.1:p.Asn1322Thr
XM_011533928.1:c.3944A>C	XP_011532230.1:p.Asn1315Thr
XM_011533929.1:c.3926A>C	XP_011532231.1:p.Asn1309Thr
XM_011533930.1:c.3887A>C	XP_011532232.1:p.Asn1296Thr
XM_011533931.1:c.3611A>C	XP_011532233.1:p.Asn1204Thr
XM_011533932.1:c.3572A>C	XP_011532234.1:p.Asn1191Thr
XM_011533933.1:c.3572A>C	XP_011532235.1:p.Asn1191Thr
NM_001349451.1:c.3554A>C	NP_001336380.1:p.Asn1185Thr
XM_011533921.2:c.4022A>C	XP_011532223.1:p.Asn1341Thr
XM_017006767.1:c.4022A>C	XP_016862256.1:p.Asn1341Thr
XM_017006768.2:c.4001A>C	XP_016862257.1:p.Asn1334Thr
XM_017006770.1:c.3965A>C	XP_016862259.1:p.Asn1322Thr
XM_017006771.1:c.3962A>C	XP_016862260.1:p.Asn1321Thr
XM_017006772.1:c.3926A>C	XP_016862261.1:p.Asn1309Thr
XM_017006773.1:c.3926A>C	XP_016862262.1:p.Asn1309Thr
XM_017006774.1:c.3905A>C	XP_016862263.1:p.Asn1302Thr
XM_017006775.1:c.3869A>C	XP_016862264.1:p.Asn1290Thr
XM_017006776.1:c.3611A>C	XP_016862265.1:p.Asn1204Thr
XM_017006777.1:c.3611A>C	XP_016862266.1:p.Asn1204Thr
XM_017006778.1:c.3611A>C	XP_016862267.1:p.Asn1204Thr
XM_017006779.1:c.3572A>C	XP_016862268.1:p.Asn1191Thr
XM_017006780.1:c.3572A>C	XP_016862269.1:p.Asn1191Thr
XM_017006783.1:c.3344A>C	XP_016862272.1:p.Asn1115Thr
XM_024453620.1:c.3983A>C	XP_024309388.1:p.Asn1328Thr
XM_024453621.1:c.3659A>C	XP_024309389.1:p.Asn1220Thr
XR_001740195.2:n.8231A>C
NM_001080517.3:c.3848A>C MANE Select	NP_001073986.1:p.Asn1283Thr
NM_001292043.2:c.3554A>C	NP_001278972.1:p.Asn1185Thr
NM_001349451.2:c.3554A>C	NP_001336380.1:p.Asn1185Thr