Canonical Allele Identifier: CA2239813

Gene: SETD5

Linked Data

• dbSNP Id: rs764193558
• ExAC: 3:9517296 C / G
• gnomAD v2: 3-9517296-C-G
• gnomAD v4: 3-9475612-C-G
• MyVariant Identifiers: chr3:g.9517296C>G (hg19) ; chr3:g.9475612C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475612C>G , CM000665.2:g.9475612C>G	GRCh38
NC_000003.11:g.9517296C>G , CM000665.1:g.9517296C>G	GRCh37
NC_000003.10:g.9492296C>G	NCBI36
NG_034132.1:g.82913C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.2805C>G
ENST00000682536.1:c.3946C>G	ENSP00000507956.1:p.Pro1316Ala
ENST00000687014.1:n.4839C>G
ENST00000689167.1:n.2230C>G
ENST00000691925.1:n.6647C>G
ENST00000693430.1:n.6092C>G
ENST00000402198.7:c.3850C>G MANE Select	ENSP00000385852.2:p.Pro1284Ala
ENST00000663774.1:c.*3996C>G	ENSP00000499452.1:n.*3996C>G
ENST00000665872.1:c.*3919C>G	ENSP00000499600.1:n.*3919C>G
ENST00000666307.1:c.*4224C>G	ENSP00000499402.1:n.*4224C>G
ENST00000670063.1:c.*3955C>G	ENSP00000499725.1:n.*3955C>G
ENST00000302463.10:c.3556C>G	ENSP00000302028.6:p.Pro1186Ala
ENST00000399686.6:c.2722+456C>G
ENST00000402198.5:c.3850C>G	ENSP00000385852.1:p.Pro1284Ala
ENST00000406341.5:c.3850C>G	ENSP00000383939.1:p.Pro1284Ala
ENST00000407969.5:c.3907C>G	ENSP00000384114.1:p.Pro1303Ala
ENST00000413704.5:c.2886C>G
ENST00000459941.1:n.981C>G
ENST00000466242.5:n.3191C>G
ENST00000466826.1:n.237C>G
ENST00000493918.5:n.4014C>G
NM_001080517.2:c.3850C>G	NP_001073986.1:p.Pro1284Ala
NM_001292043.1:c.3556C>G	NP_001278972.1:p.Pro1186Ala
XM_005265301.1:c.3907C>G	XP_005265358.1:p.Pro1303Ala
XM_005265303.1:c.3850C>G	XP_005265360.1:p.Pro1284Ala
XM_011533920.1:c.4024C>G	XP_011532222.1:p.Pro1342Ala
XM_011533921.1:c.4024C>G	XP_011532223.1:p.Pro1342Ala
XM_011533922.1:c.4003C>G	XP_011532224.1:p.Pro1335Ala
XM_011533923.1:c.4003C>G	XP_011532225.1:p.Pro1335Ala
XM_011533924.1:c.4003C>G	XP_011532226.1:p.Pro1335Ala
XM_011533925.1:c.3985C>G	XP_011532227.1:p.Pro1329Ala
XM_011533926.1:c.3967C>G	XP_011532228.1:p.Pro1323Ala
XM_011533927.1:c.3967C>G	XP_011532229.1:p.Pro1323Ala
XM_011533928.1:c.3946C>G	XP_011532230.1:p.Pro1316Ala
XM_011533929.1:c.3928C>G	XP_011532231.1:p.Pro1310Ala
XM_011533930.1:c.3889C>G	XP_011532232.1:p.Pro1297Ala
XM_011533931.1:c.3613C>G	XP_011532233.1:p.Pro1205Ala
XM_011533932.1:c.3574C>G	XP_011532234.1:p.Pro1192Ala
XM_011533933.1:c.3574C>G	XP_011532235.1:p.Pro1192Ala
NM_001349451.1:c.3556C>G	NP_001336380.1:p.Pro1186Ala
XM_011533921.2:c.4024C>G	XP_011532223.1:p.Pro1342Ala
XM_017006767.1:c.4024C>G	XP_016862256.1:p.Pro1342Ala
XM_017006768.2:c.4003C>G	XP_016862257.1:p.Pro1335Ala
XM_017006770.1:c.3967C>G	XP_016862259.1:p.Pro1323Ala
XM_017006771.1:c.3964C>G	XP_016862260.1:p.Pro1322Ala
XM_017006772.1:c.3928C>G	XP_016862261.1:p.Pro1310Ala
XM_017006773.1:c.3928C>G	XP_016862262.1:p.Pro1310Ala
XM_017006774.1:c.3907C>G	XP_016862263.1:p.Pro1303Ala
XM_017006775.1:c.3871C>G	XP_016862264.1:p.Pro1291Ala
XM_017006776.1:c.3613C>G	XP_016862265.1:p.Pro1205Ala
XM_017006777.1:c.3613C>G	XP_016862266.1:p.Pro1205Ala
XM_017006778.1:c.3613C>G	XP_016862267.1:p.Pro1205Ala
XM_017006779.1:c.3574C>G	XP_016862268.1:p.Pro1192Ala
XM_017006780.1:c.3574C>G	XP_016862269.1:p.Pro1192Ala
XM_017006783.1:c.3346C>G	XP_016862272.1:p.Pro1116Ala
XM_024453620.1:c.3985C>G	XP_024309388.1:p.Pro1329Ala
XM_024453621.1:c.3661C>G	XP_024309389.1:p.Pro1221Ala
XR_001740195.2:n.8233C>G
NM_001080517.3:c.3850C>G MANE Select	NP_001073986.1:p.Pro1284Ala
NM_001292043.2:c.3556C>G	NP_001278972.1:p.Pro1186Ala
NM_001349451.2:c.3556C>G	NP_001336380.1:p.Pro1186Ala