Canonical Allele Identifier: CA184264144

Gene: RAD21 UTP23

Linked Data

• dbSNP Id: rs752023237
• gnomAD v2: 8-117859918-T-C
• gnomAD v4: 8-116847679-T-C
• MyVariant Identifiers: chr8:g.117859918T>C (hg19) ; chr8:g.116847679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116847679T>C , CM000670.2:g.116847679T>C	GRCh38
NC_000008.10:g.117859918T>C , CM000670.1:g.117859918T>C	GRCh37
NC_000008.9:g.117929099T>C	NCBI36
NG_032862.1:g.32188A>G , LRG_772:g.32188A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517485.6:c.1717A>G (RAD21)	ENSP00000427923.2:p.Lys573Glu
ENST00000517749.2:c.1717A>G (RAD21)	ENSP00000430273.2:p.Lys573Glu
ENST00000519837.6:c.1717A>G (RAD21)	ENSP00000430524.2:p.Lys573Glu
ENST00000520992.6:c.1717A>G (RAD21)	ENSP00000429342.2:p.Lys573Glu
ENST00000522699.2:c.1717A>G (RAD21)	ENSP00000428158.2:p.Lys573Glu
ENST00000523986.6:n.4686A>G (RAD21)
ENST00000685972.1:n.5020A>G (RAD21)
ENST00000687122.1:n.4545A>G (RAD21)
ENST00000687358.1:c.1717A>G (RAD21)	ENSP00000509687.1:p.Lys573Glu
ENST00000687902.1:c.*92A>G (RAD21)	ENSP00000510729.1:n.*92A>G
ENST00000689124.1:n.1931A>G (RAD21)
ENST00000689154.1:n.1609A>G (RAD21)
ENST00000690166.1:n.6586A>G (RAD21)
ENST00000297338.7:c.1717A>G (RAD21) MANE Select	ENSP00000297338.2:p.Lys573Glu
ENST00000297338.6:c.1717A>G (RAD21)	ENSP00000297338.2:p.Lys573Glu
ENST00000517749.1:c.31A>G (RAD21)	ENSP00000430273.1:p.Lys11Glu
ENST00000517820.1:c.189-1209T>C (UTP23)	ENSP00000427767.1:n.189-1209T>C
ENST00000518055.1:c.352A>G (RAD21)	ENSP00000428003.1:p.Lys118Glu
ENST00000520733.5:c.46-1209T>C (UTP23)	ENSP00000429384.1:n.46-1209T>C
ENST00000521703.5:c.*93-1209T>C (UTP23)	ENSP00000428455.1:n.*93-1209T>C
ENST00000523986.5:c.229A>G (RAD21)	ENSP00000428513.1:p.Lys77Glu
ENST00000524128.1:c.*93-1209T>C (UTP23)	ENSP00000430309.1:n.*93-1209T>C
NM_006265.2:c.1717A>G , LRG_772t1:c.1717A>G (RAD21)	NP_006256.1:p.Lys573Glu
XR_928356.1:n.663-1209T>C (UTP23)
NM_006265.3:c.1717A>G (RAD21) MANE Select	NP_006256.1:p.Lys573Glu