Canonical Allele Identifier: CA371988782

Gene: RAD21 UTP23

Linked Data

• ClinVar Variation Id: 1479168
• ClinVar RCV Id: RCV001976645
• dbSNP Id: rs764118613
• MyVariant Identifiers: chr8:g.117859777T>A (hg19) ; chr8:g.116847538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116847538T>A , CM000670.2:g.116847538T>A	GRCh38
NC_000008.10:g.117859777T>A , CM000670.1:g.117859777T>A	GRCh37
NC_000008.9:g.117928958T>A	NCBI36
NG_032862.1:g.32329A>T , LRG_772:g.32329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517485.6:c.1858A>T (RAD21)	ENSP00000427923.2:p.Ile620Phe
ENST00000517749.2:c.1858A>T (RAD21)	ENSP00000430273.2:p.Ile620Phe
ENST00000519837.6:c.1858A>T (RAD21)	ENSP00000430524.2:p.Ile620Phe
ENST00000520992.6:c.1858A>T (RAD21)	ENSP00000429342.2:p.Ile620Phe
ENST00000522699.2:c.1858A>T (RAD21)	ENSP00000428158.2:p.Ile620Phe
ENST00000523986.6:n.4827A>T (RAD21)
ENST00000685972.1:n.5161A>T (RAD21)
ENST00000687122.1:n.4686A>T (RAD21)
ENST00000687358.1:c.1858A>T (RAD21)	ENSP00000509687.1:p.Ile620Phe
ENST00000687902.1:c.*233A>T (RAD21)	ENSP00000510729.1:n.*233A>T
ENST00000689124.1:n.2072A>T (RAD21)
ENST00000689154.1:n.1750A>T (RAD21)
ENST00000690166.1:n.6727A>T (RAD21)
ENST00000297338.7:c.1858A>T (RAD21) MANE Select	ENSP00000297338.2:p.Ile620Phe
ENST00000297338.6:c.1858A>T (RAD21)	ENSP00000297338.2:p.Ile620Phe
ENST00000517749.1:c.172A>T (RAD21)	ENSP00000430273.1:p.Ile58Phe
ENST00000517820.1:c.189-1350T>A (UTP23)	ENSP00000427767.1:n.189-1350T>A
ENST00000518055.1:c.493A>T (RAD21)	ENSP00000428003.1:p.Ile165Phe
ENST00000520733.5:c.46-1350T>A (UTP23)	ENSP00000429384.1:n.46-1350T>A
ENST00000521703.5:c.*93-1350T>A (UTP23)	ENSP00000428455.1:n.*93-1350T>A
ENST00000523986.5:c.370A>T (RAD21)	ENSP00000428513.1:p.Ile124Phe
ENST00000524128.1:c.*93-1350T>A (UTP23)	ENSP00000430309.1:n.*93-1350T>A
NM_006265.2:c.1858A>T , LRG_772t1:c.1858A>T (RAD21)	NP_006256.1:p.Ile620Phe
XR_928356.1:n.663-1350T>A (UTP23)
NM_006265.3:c.1858A>T (RAD21) MANE Select	NP_006256.1:p.Ile620Phe