Canonical Allele Identifier: CA2239818

Gene: SETD5

Linked Data

• dbSNP Id: rs369121817
• ExAC: 3:9517301 C / T
• gnomAD v2: 3-9517301-C-T
• gnomAD v3: 3-9475617-C-T
• gnomAD v4: 3-9475617-C-T
• MyVariant Identifiers: chr3:g.9517301C>T (hg19) ; chr3:g.9517301_9517302delinsTT (hg19) ; chr3:g.9475617C>T (hg38) ; chr3:g.9475617_9475618delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475617C>T , CM000665.2:g.9475617C>T	GRCh38
NC_000003.11:g.9517301C>T , CM000665.1:g.9517301C>T	GRCh37
NC_000003.10:g.9492301C>T	NCBI36
NG_034132.1:g.82918C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.2810C>T
ENST00000682536.1:c.3951C>T	ENSP00000507956.1:p.Pro1317=
ENST00000687014.1:n.4844C>T
ENST00000689167.1:n.2235C>T
ENST00000691925.1:n.6652C>T
ENST00000693430.1:n.6097C>T
ENST00000402198.7:c.3855C>T MANE Select	ENSP00000385852.2:p.Pro1285=
ENST00000663774.1:c.*4001C>T	ENSP00000499452.1:n.*4001C>T
ENST00000665872.1:c.*3924C>T	ENSP00000499600.1:n.*3924C>T
ENST00000666307.1:c.*4229C>T	ENSP00000499402.1:n.*4229C>T
ENST00000670063.1:c.*3960C>T	ENSP00000499725.1:n.*3960C>T
ENST00000302463.10:c.3561C>T	ENSP00000302028.6:p.Pro1187=
ENST00000399686.6:c.2722+461C>T
ENST00000402198.5:c.3855C>T	ENSP00000385852.1:p.Pro1285=
ENST00000406341.5:c.3855C>T	ENSP00000383939.1:p.Pro1285=
ENST00000407969.5:c.3912C>T	ENSP00000384114.1:p.Pro1304=
ENST00000413704.5:c.2891C>T
ENST00000459941.1:n.986C>T
ENST00000466242.5:n.3196C>T
ENST00000466826.1:n.242C>T
ENST00000493918.5:n.4019C>T
NM_001080517.2:c.3855C>T	NP_001073986.1:p.Pro1285=
NM_001292043.1:c.3561C>T	NP_001278972.1:p.Pro1187=
XM_005265301.1:c.3912C>T	XP_005265358.1:p.Pro1304=
XM_005265303.1:c.3855C>T	XP_005265360.1:p.Pro1285=
XM_011533920.1:c.4029C>T	XP_011532222.1:p.Pro1343=
XM_011533921.1:c.4029C>T	XP_011532223.1:p.Pro1343=
XM_011533922.1:c.4008C>T	XP_011532224.1:p.Pro1336=
XM_011533923.1:c.4008C>T	XP_011532225.1:p.Pro1336=
XM_011533924.1:c.4008C>T	XP_011532226.1:p.Pro1336=
XM_011533925.1:c.3990C>T	XP_011532227.1:p.Pro1330=
XM_011533926.1:c.3972C>T	XP_011532228.1:p.Pro1324=
XM_011533927.1:c.3972C>T	XP_011532229.1:p.Pro1324=
XM_011533928.1:c.3951C>T	XP_011532230.1:p.Pro1317=
XM_011533929.1:c.3933C>T	XP_011532231.1:p.Pro1311=
XM_011533930.1:c.3894C>T	XP_011532232.1:p.Pro1298=
XM_011533931.1:c.3618C>T	XP_011532233.1:p.Pro1206=
XM_011533932.1:c.3579C>T	XP_011532234.1:p.Pro1193=
XM_011533933.1:c.3579C>T	XP_011532235.1:p.Pro1193=
NM_001349451.1:c.3561C>T	NP_001336380.1:p.Pro1187=
XM_011533921.2:c.4029C>T	XP_011532223.1:p.Pro1343=
XM_017006767.1:c.4029C>T	XP_016862256.1:p.Pro1343=
XM_017006768.2:c.4008C>T	XP_016862257.1:p.Pro1336=
XM_017006770.1:c.3972C>T	XP_016862259.1:p.Pro1324=
XM_017006771.1:c.3969C>T	XP_016862260.1:p.Pro1323=
XM_017006772.1:c.3933C>T	XP_016862261.1:p.Pro1311=
XM_017006773.1:c.3933C>T	XP_016862262.1:p.Pro1311=
XM_017006774.1:c.3912C>T	XP_016862263.1:p.Pro1304=
XM_017006775.1:c.3876C>T	XP_016862264.1:p.Pro1292=
XM_017006776.1:c.3618C>T	XP_016862265.1:p.Pro1206=
XM_017006777.1:c.3618C>T	XP_016862266.1:p.Pro1206=
XM_017006778.1:c.3618C>T	XP_016862267.1:p.Pro1206=
XM_017006779.1:c.3579C>T	XP_016862268.1:p.Pro1193=
XM_017006780.1:c.3579C>T	XP_016862269.1:p.Pro1193=
XM_017006783.1:c.3351C>T	XP_016862272.1:p.Pro1117=
XM_024453620.1:c.3990C>T	XP_024309388.1:p.Pro1330=
XM_024453621.1:c.3666C>T	XP_024309389.1:p.Pro1222=
XR_001740195.2:n.8238C>T
NM_001080517.3:c.3855C>T MANE Select	NP_001073986.1:p.Pro1285=
NM_001292043.2:c.3561C>T	NP_001278972.1:p.Pro1187=
NM_001349451.2:c.3561C>T	NP_001336380.1:p.Pro1187=