Canonical Allele Identifier: CA371990349

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116847648T>G , CM000670.2:g.116847648T>G GRCh38
NC_000008.10:g.117859887T>G , CM000670.1:g.117859887T>G GRCh37
NC_000008.9:g.117929068T>G NCBI36
NG_032862.1:g.32219A>C , LRG_772:g.32219A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000517485.6:c.1748A>C (RAD21) ENSP00000427923.2:p.Glu583Ala
ENST00000517749.2:c.1748A>C (RAD21) ENSP00000430273.2:p.Glu583Ala
ENST00000519837.6:c.1748A>C (RAD21) ENSP00000430524.2:p.Glu583Ala
ENST00000520992.6:c.1748A>C (RAD21) ENSP00000429342.2:p.Glu583Ala
ENST00000522699.2:c.1748A>C (RAD21) ENSP00000428158.2:p.Glu583Ala
ENST00000523986.6:n.4717A>C (RAD21)
ENST00000685972.1:n.5051A>C (RAD21)
ENST00000687122.1:n.4576A>C (RAD21)
ENST00000687358.1:c.1748A>C (RAD21) ENSP00000509687.1:p.Glu583Ala
ENST00000687902.1:c.*123A>C (RAD21) ENSP00000510729.1:n.*123A>C
ENST00000689124.1:n.1962A>C (RAD21)
ENST00000689154.1:n.1640A>C (RAD21)
ENST00000690166.1:n.6617A>C (RAD21)
ENST00000297338.7:c.1748A>C (RAD21) MANE Select ENSP00000297338.2:p.Glu583Ala
ENST00000297338.6:c.1748A>C (RAD21) ENSP00000297338.2:p.Glu583Ala
ENST00000517749.1:c.62A>C (RAD21) ENSP00000430273.1:p.Glu21Ala
ENST00000517820.1:c.189-1240T>G (UTP23) ENSP00000427767.1:n.189-1240T>G
ENST00000518055.1:c.383A>C (RAD21) ENSP00000428003.1:p.Glu128Ala
ENST00000520733.5:c.46-1240T>G (UTP23) ENSP00000429384.1:n.46-1240T>G
ENST00000521703.5:c.*93-1240T>G (UTP23) ENSP00000428455.1:n.*93-1240T>G
ENST00000523986.5:c.260A>C (RAD21) ENSP00000428513.1:p.Glu87Ala
ENST00000524128.1:c.*93-1240T>G (UTP23) ENSP00000430309.1:n.*93-1240T>G
NM_006265.2:c.1748A>C , LRG_772t1:c.1748A>C (RAD21) NP_006256.1:p.Glu583Ala
XR_928356.1:n.663-1240T>G (UTP23)
NM_006265.3:c.1748A>C (RAD21) MANE Select NP_006256.1:p.Glu583Ala