Canonical Allele Identifier: CA462497833

Gene: RAD21 UTP23

Linked Data

• dbSNP Id: rs1380599458
• gnomAD v2: 8-117859826-A-C
• gnomAD v4: 8-116847587-A-C
• MyVariant Identifiers: chr8:g.117859826A>C (hg19) ; chr8:g.116847587A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116847587A>C , CM000670.2:g.116847587A>C	GRCh38
NC_000008.10:g.117859826A>C , CM000670.1:g.117859826A>C	GRCh37
NC_000008.9:g.117929007A>C	NCBI36
NG_032862.1:g.32280T>G , LRG_772:g.32280T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517485.6:c.1809T>G (RAD21)	ENSP00000427923.2:p.Leu603=
ENST00000517749.2:c.1809T>G (RAD21)	ENSP00000430273.2:p.Leu603=
ENST00000519837.6:c.1809T>G (RAD21)	ENSP00000430524.2:p.Leu603=
ENST00000520992.6:c.1809T>G (RAD21)	ENSP00000429342.2:p.Leu603=
ENST00000522699.2:c.1809T>G (RAD21)	ENSP00000428158.2:p.Leu603=
ENST00000523986.6:n.4778T>G (RAD21)
ENST00000685972.1:n.5112T>G (RAD21)
ENST00000687122.1:n.4637T>G (RAD21)
ENST00000687358.1:c.1809T>G (RAD21)	ENSP00000509687.1:p.Leu603=
ENST00000687902.1:c.*184T>G (RAD21)	ENSP00000510729.1:n.*184T>G
ENST00000689124.1:n.2023T>G (RAD21)
ENST00000689154.1:n.1701T>G (RAD21)
ENST00000690166.1:n.6678T>G (RAD21)
ENST00000297338.7:c.1809T>G (RAD21) MANE Select	ENSP00000297338.2:p.Leu603=
ENST00000297338.6:c.1809T>G (RAD21)	ENSP00000297338.2:p.Leu603=
ENST00000517749.1:c.123T>G (RAD21)	ENSP00000430273.1:p.Leu41=
ENST00000517820.1:c.189-1301A>C (UTP23)	ENSP00000427767.1:n.189-1301A>C
ENST00000518055.1:c.444T>G (RAD21)	ENSP00000428003.1:p.Leu148=
ENST00000520733.5:c.46-1301A>C (UTP23)	ENSP00000429384.1:n.46-1301A>C
ENST00000521703.5:c.*93-1301A>C (UTP23)	ENSP00000428455.1:n.*93-1301A>C
ENST00000523986.5:c.321T>G (RAD21)	ENSP00000428513.1:p.Leu107=
ENST00000524128.1:c.*93-1301A>C (UTP23)	ENSP00000430309.1:n.*93-1301A>C
NM_006265.2:c.1809T>G , LRG_772t1:c.1809T>G (RAD21)	NP_006256.1:p.Leu603=
XR_928356.1:n.663-1301A>C (UTP23)
NM_006265.3:c.1809T>G (RAD21) MANE Select	NP_006256.1:p.Leu603=