Canonical Allele Identifier: CA371990668

Gene: RAD21 UTP23

Linked Data

• dbSNP Id: rs1359749070
• gnomAD v2: 8-117859920-G-A
• gnomAD v4: 8-116847681-G-A
• MyVariant Identifiers: chr8:g.117859920G>A (hg19) ; chr8:g.116847681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116847681G>A , CM000670.2:g.116847681G>A	GRCh38
NC_000008.10:g.117859920G>A , CM000670.1:g.117859920G>A	GRCh37
NC_000008.9:g.117929101G>A	NCBI36
NG_032862.1:g.32186C>T , LRG_772:g.32186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517485.6:c.1715C>T (RAD21)	ENSP00000427923.2:p.Ala572Val
ENST00000517749.2:c.1715C>T (RAD21)	ENSP00000430273.2:p.Ala572Val
ENST00000519837.6:c.1715C>T (RAD21)	ENSP00000430524.2:p.Ala572Val
ENST00000520992.6:c.1715C>T (RAD21)	ENSP00000429342.2:p.Ala572Val
ENST00000522699.2:c.1715C>T (RAD21)	ENSP00000428158.2:p.Ala572Val
ENST00000523986.6:n.4684C>T (RAD21)
ENST00000685972.1:n.5018C>T (RAD21)
ENST00000687122.1:n.4543C>T (RAD21)
ENST00000687358.1:c.1715C>T (RAD21)	ENSP00000509687.1:p.Ala572Val
ENST00000687902.1:c.*90C>T (RAD21)	ENSP00000510729.1:n.*90C>T
ENST00000689124.1:n.1929C>T (RAD21)
ENST00000689154.1:n.1607C>T (RAD21)
ENST00000690166.1:n.6584C>T (RAD21)
ENST00000297338.7:c.1715C>T (RAD21) MANE Select	ENSP00000297338.2:p.Ala572Val
ENST00000297338.6:c.1715C>T (RAD21)	ENSP00000297338.2:p.Ala572Val
ENST00000517749.1:c.29C>T (RAD21)	ENSP00000430273.1:p.Ala10Val
ENST00000517820.1:c.189-1207G>A (UTP23)	ENSP00000427767.1:n.189-1207G>A
ENST00000518055.1:c.350C>T (RAD21)	ENSP00000428003.1:p.Ala117Val
ENST00000520733.5:c.46-1207G>A (UTP23)	ENSP00000429384.1:n.46-1207G>A
ENST00000521703.5:c.*93-1207G>A (UTP23)	ENSP00000428455.1:n.*93-1207G>A
ENST00000523986.5:c.227C>T (RAD21)	ENSP00000428513.1:p.Ala76Val
ENST00000524128.1:c.*93-1207G>A (UTP23)	ENSP00000430309.1:n.*93-1207G>A
NM_006265.2:c.1715C>T , LRG_772t1:c.1715C>T (RAD21)	NP_006256.1:p.Ala572Val
XR_928356.1:n.663-1207G>A (UTP23)
NM_006265.3:c.1715C>T (RAD21) MANE Select	NP_006256.1:p.Ala572Val