Canonical Allele Identifier: CA371989987

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116847610T>A , CM000670.2:g.116847610T>A GRCh38
NC_000008.10:g.117859849T>A , CM000670.1:g.117859849T>A GRCh37
NC_000008.9:g.117929030T>A NCBI36
NG_032862.1:g.32257A>T , LRG_772:g.32257A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000517485.6:c.1786A>T (RAD21) ENSP00000427923.2:p.Lys596Ter
ENST00000517749.2:c.1786A>T (RAD21) ENSP00000430273.2:p.Lys596Ter
ENST00000519837.6:c.1786A>T (RAD21) ENSP00000430524.2:p.Lys596Ter
ENST00000520992.6:c.1786A>T (RAD21) ENSP00000429342.2:p.Lys596Ter
ENST00000522699.2:c.1786A>T (RAD21) ENSP00000428158.2:p.Lys596Ter
ENST00000523986.6:n.4755A>T (RAD21)
ENST00000685972.1:n.5089A>T (RAD21)
ENST00000687122.1:n.4614A>T (RAD21)
ENST00000687358.1:c.1786A>T (RAD21) ENSP00000509687.1:p.Lys596Ter
ENST00000687902.1:c.*161A>T (RAD21) ENSP00000510729.1:n.*161A>T
ENST00000689124.1:n.2000A>T (RAD21)
ENST00000689154.1:n.1678A>T (RAD21)
ENST00000690166.1:n.6655A>T (RAD21)
ENST00000297338.7:c.1786A>T (RAD21) MANE Select ENSP00000297338.2:p.Lys596Ter
ENST00000297338.6:c.1786A>T (RAD21) ENSP00000297338.2:p.Lys596Ter
ENST00000517749.1:c.100A>T (RAD21) ENSP00000430273.1:p.Lys34Ter
ENST00000517820.1:c.189-1278T>A (UTP23) ENSP00000427767.1:n.189-1278T>A
ENST00000518055.1:c.421A>T (RAD21) ENSP00000428003.1:p.Lys141Ter
ENST00000520733.5:c.46-1278T>A (UTP23) ENSP00000429384.1:n.46-1278T>A
ENST00000521703.5:c.*93-1278T>A (UTP23) ENSP00000428455.1:n.*93-1278T>A
ENST00000523986.5:c.298A>T (RAD21) ENSP00000428513.1:p.Lys100Ter
ENST00000524128.1:c.*93-1278T>A (UTP23) ENSP00000430309.1:n.*93-1278T>A
NM_006265.2:c.1786A>T , LRG_772t1:c.1786A>T (RAD21) NP_006256.1:p.Lys596Ter
XR_928356.1:n.663-1278T>A (UTP23)
NM_006265.3:c.1786A>T (RAD21) MANE Select NP_006256.1:p.Lys596Ter