Canonical Allele Identifier: CA371990013

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116847613C>G , CM000670.2:g.116847613C>G GRCh38
NC_000008.10:g.117859852C>G , CM000670.1:g.117859852C>G GRCh37
NC_000008.9:g.117929033C>G NCBI36
NG_032862.1:g.32254G>C , LRG_772:g.32254G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000517485.6:c.1783G>C (RAD21) ENSP00000427923.2:p.Ala595Pro
ENST00000517749.2:c.1783G>C (RAD21) ENSP00000430273.2:p.Ala595Pro
ENST00000519837.6:c.1783G>C (RAD21) ENSP00000430524.2:p.Ala595Pro
ENST00000520992.6:c.1783G>C (RAD21) ENSP00000429342.2:p.Ala595Pro
ENST00000522699.2:c.1783G>C (RAD21) ENSP00000428158.2:p.Ala595Pro
ENST00000523986.6:n.4752G>C (RAD21)
ENST00000685972.1:n.5086G>C (RAD21)
ENST00000687122.1:n.4611G>C (RAD21)
ENST00000687358.1:c.1783G>C (RAD21) ENSP00000509687.1:p.Ala595Pro
ENST00000687902.1:c.*158G>C (RAD21) ENSP00000510729.1:n.*158G>C
ENST00000689124.1:n.1997G>C (RAD21)
ENST00000689154.1:n.1675G>C (RAD21)
ENST00000690166.1:n.6652G>C (RAD21)
ENST00000297338.7:c.1783G>C (RAD21) MANE Select ENSP00000297338.2:p.Ala595Pro
ENST00000297338.6:c.1783G>C (RAD21) ENSP00000297338.2:p.Ala595Pro
ENST00000517749.1:c.97G>C (RAD21) ENSP00000430273.1:p.Ala33Pro
ENST00000517820.1:c.189-1275C>G (UTP23) ENSP00000427767.1:n.189-1275C>G
ENST00000518055.1:c.418G>C (RAD21) ENSP00000428003.1:p.Ala140Pro
ENST00000520733.5:c.46-1275C>G (UTP23) ENSP00000429384.1:n.46-1275C>G
ENST00000521703.5:c.*93-1275C>G (UTP23) ENSP00000428455.1:n.*93-1275C>G
ENST00000523986.5:c.295G>C (RAD21) ENSP00000428513.1:p.Ala99Pro
ENST00000524128.1:c.*93-1275C>G (UTP23) ENSP00000430309.1:n.*93-1275C>G
NM_006265.2:c.1783G>C , LRG_772t1:c.1783G>C (RAD21) NP_006256.1:p.Ala595Pro
XR_928356.1:n.663-1275C>G (UTP23)
NM_006265.3:c.1783G>C (RAD21) MANE Select NP_006256.1:p.Ala595Pro