Canonical Allele Identifier: CA371990420

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116847654A>T , CM000670.2:g.116847654A>T GRCh38
NC_000008.10:g.117859893A>T , CM000670.1:g.117859893A>T GRCh37
NC_000008.9:g.117929074A>T NCBI36
NG_032862.1:g.32213T>A , LRG_772:g.32213T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000517485.6:c.1742T>A (RAD21) ENSP00000427923.2:p.Leu581Ter
ENST00000517749.2:c.1742T>A (RAD21) ENSP00000430273.2:p.Leu581Ter
ENST00000519837.6:c.1742T>A (RAD21) ENSP00000430524.2:p.Leu581Ter
ENST00000520992.6:c.1742T>A (RAD21) ENSP00000429342.2:p.Leu581Ter
ENST00000522699.2:c.1742T>A (RAD21) ENSP00000428158.2:p.Leu581Ter
ENST00000523986.6:n.4711T>A (RAD21)
ENST00000685972.1:n.5045T>A (RAD21)
ENST00000687122.1:n.4570T>A (RAD21)
ENST00000687358.1:c.1742T>A (RAD21) ENSP00000509687.1:p.Leu581Ter
ENST00000687902.1:c.*117T>A (RAD21) ENSP00000510729.1:n.*117T>A
ENST00000689124.1:n.1956T>A (RAD21)
ENST00000689154.1:n.1634T>A (RAD21)
ENST00000690166.1:n.6611T>A (RAD21)
ENST00000297338.7:c.1742T>A (RAD21) MANE Select ENSP00000297338.2:p.Leu581Ter
ENST00000297338.6:c.1742T>A (RAD21) ENSP00000297338.2:p.Leu581Ter
ENST00000517749.1:c.56T>A (RAD21) ENSP00000430273.1:p.Leu19Ter
ENST00000517820.1:c.189-1234A>T (UTP23) ENSP00000427767.1:n.189-1234A>T
ENST00000518055.1:c.377T>A (RAD21) ENSP00000428003.1:p.Leu126Ter
ENST00000520733.5:c.46-1234A>T (UTP23) ENSP00000429384.1:n.46-1234A>T
ENST00000521703.5:c.*93-1234A>T (UTP23) ENSP00000428455.1:n.*93-1234A>T
ENST00000523986.5:c.254T>A (RAD21) ENSP00000428513.1:p.Leu85Ter
ENST00000524128.1:c.*93-1234A>T (UTP23) ENSP00000430309.1:n.*93-1234A>T
NM_006265.2:c.1742T>A , LRG_772t1:c.1742T>A (RAD21) NP_006256.1:p.Leu581Ter
XR_928356.1:n.663-1234A>T (UTP23)
NM_006265.3:c.1742T>A (RAD21) MANE Select NP_006256.1:p.Leu581Ter