Canonical Allele Identifier: CA371990463

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116847658T>A , CM000670.2:g.116847658T>A GRCh38
NC_000008.10:g.117859897T>A , CM000670.1:g.117859897T>A GRCh37
NC_000008.9:g.117929078T>A NCBI36
NG_032862.1:g.32209A>T , LRG_772:g.32209A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000517485.6:c.1738A>T (RAD21) ENSP00000427923.2:p.Ser580Cys
ENST00000517749.2:c.1738A>T (RAD21) ENSP00000430273.2:p.Ser580Cys
ENST00000519837.6:c.1738A>T (RAD21) ENSP00000430524.2:p.Ser580Cys
ENST00000520992.6:c.1738A>T (RAD21) ENSP00000429342.2:p.Ser580Cys
ENST00000522699.2:c.1738A>T (RAD21) ENSP00000428158.2:p.Ser580Cys
ENST00000523986.6:n.4707A>T (RAD21)
ENST00000685972.1:n.5041A>T (RAD21)
ENST00000687122.1:n.4566A>T (RAD21)
ENST00000687358.1:c.1738A>T (RAD21) ENSP00000509687.1:p.Ser580Cys
ENST00000687902.1:c.*113A>T (RAD21) ENSP00000510729.1:n.*113A>T
ENST00000689124.1:n.1952A>T (RAD21)
ENST00000689154.1:n.1630A>T (RAD21)
ENST00000690166.1:n.6607A>T (RAD21)
ENST00000297338.7:c.1738A>T (RAD21) MANE Select ENSP00000297338.2:p.Ser580Cys
ENST00000297338.6:c.1738A>T (RAD21) ENSP00000297338.2:p.Ser580Cys
ENST00000517749.1:c.52A>T (RAD21) ENSP00000430273.1:p.Ser18Cys
ENST00000517820.1:c.189-1230T>A (UTP23) ENSP00000427767.1:n.189-1230T>A
ENST00000518055.1:c.373A>T (RAD21) ENSP00000428003.1:p.Ser125Cys
ENST00000520733.5:c.46-1230T>A (UTP23) ENSP00000429384.1:n.46-1230T>A
ENST00000521703.5:c.*93-1230T>A (UTP23) ENSP00000428455.1:n.*93-1230T>A
ENST00000523986.5:c.250A>T (RAD21) ENSP00000428513.1:p.Ser84Cys
ENST00000524128.1:c.*93-1230T>A (UTP23) ENSP00000430309.1:n.*93-1230T>A
NM_006265.2:c.1738A>T , LRG_772t1:c.1738A>T (RAD21) NP_006256.1:p.Ser580Cys
XR_928356.1:n.663-1230T>A (UTP23)
NM_006265.3:c.1738A>T (RAD21) MANE Select NP_006256.1:p.Ser580Cys