Canonical Allele Identifier: CA371990046

Gene: RAD21 UTP23

Linked Data

• dbSNP Id: rs1812273135
• gnomAD v4: 8-116847616-C-T
• MyVariant Identifiers: chr8:g.117859855C>T (hg19) ; chr8:g.116847616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116847616C>T , CM000670.2:g.116847616C>T	GRCh38
NC_000008.10:g.117859855C>T , CM000670.1:g.117859855C>T	GRCh37
NC_000008.9:g.117929036C>T	NCBI36
NG_032862.1:g.32251G>A , LRG_772:g.32251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517485.6:c.1780G>A (RAD21)	ENSP00000427923.2:p.Ala594Thr
ENST00000517749.2:c.1780G>A (RAD21)	ENSP00000430273.2:p.Ala594Thr
ENST00000519837.6:c.1780G>A (RAD21)	ENSP00000430524.2:p.Ala594Thr
ENST00000520992.6:c.1780G>A (RAD21)	ENSP00000429342.2:p.Ala594Thr
ENST00000522699.2:c.1780G>A (RAD21)	ENSP00000428158.2:p.Ala594Thr
ENST00000523986.6:n.4749G>A (RAD21)
ENST00000685972.1:n.5083G>A (RAD21)
ENST00000687122.1:n.4608G>A (RAD21)
ENST00000687358.1:c.1780G>A (RAD21)	ENSP00000509687.1:p.Ala594Thr
ENST00000687902.1:c.*155G>A (RAD21)	ENSP00000510729.1:n.*155G>A
ENST00000689124.1:n.1994G>A (RAD21)
ENST00000689154.1:n.1672G>A (RAD21)
ENST00000690166.1:n.6649G>A (RAD21)
ENST00000297338.7:c.1780G>A (RAD21) MANE Select	ENSP00000297338.2:p.Ala594Thr
ENST00000297338.6:c.1780G>A (RAD21)	ENSP00000297338.2:p.Ala594Thr
ENST00000517749.1:c.94G>A (RAD21)	ENSP00000430273.1:p.Ala32Thr
ENST00000517820.1:c.189-1272C>T (UTP23)	ENSP00000427767.1:n.189-1272C>T
ENST00000518055.1:c.415G>A (RAD21)	ENSP00000428003.1:p.Ala139Thr
ENST00000520733.5:c.46-1272C>T (UTP23)	ENSP00000429384.1:n.46-1272C>T
ENST00000521703.5:c.*93-1272C>T (UTP23)	ENSP00000428455.1:n.*93-1272C>T
ENST00000523986.5:c.292G>A (RAD21)	ENSP00000428513.1:p.Ala98Thr
ENST00000524128.1:c.*93-1272C>T (UTP23)	ENSP00000430309.1:n.*93-1272C>T
NM_006265.2:c.1780G>A , LRG_772t1:c.1780G>A (RAD21)	NP_006256.1:p.Ala594Thr
XR_928356.1:n.663-1272C>T (UTP23)
NM_006265.3:c.1780G>A (RAD21) MANE Select	NP_006256.1:p.Ala594Thr