Canonical Allele Identifier: CA371989942

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116847605G>C , CM000670.2:g.116847605G>C GRCh38
NC_000008.10:g.117859844G>C , CM000670.1:g.117859844G>C GRCh37
NC_000008.9:g.117929025G>C NCBI36
NG_032862.1:g.32262C>G , LRG_772:g.32262C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000517485.6:c.1791C>G (RAD21) ENSP00000427923.2:p.Phe597Leu
ENST00000517749.2:c.1791C>G (RAD21) ENSP00000430273.2:p.Phe597Leu
ENST00000519837.6:c.1791C>G (RAD21) ENSP00000430524.2:p.Phe597Leu
ENST00000520992.6:c.1791C>G (RAD21) ENSP00000429342.2:p.Phe597Leu
ENST00000522699.2:c.1791C>G (RAD21) ENSP00000428158.2:p.Phe597Leu
ENST00000523986.6:n.4760C>G (RAD21)
ENST00000685972.1:n.5094C>G (RAD21)
ENST00000687122.1:n.4619C>G (RAD21)
ENST00000687358.1:c.1791C>G (RAD21) ENSP00000509687.1:p.Phe597Leu
ENST00000687902.1:c.*166C>G (RAD21) ENSP00000510729.1:n.*166C>G
ENST00000689124.1:n.2005C>G (RAD21)
ENST00000689154.1:n.1683C>G (RAD21)
ENST00000690166.1:n.6660C>G (RAD21)
ENST00000297338.7:c.1791C>G (RAD21) MANE Select ENSP00000297338.2:p.Phe597Leu
ENST00000297338.6:c.1791C>G (RAD21) ENSP00000297338.2:p.Phe597Leu
ENST00000517749.1:c.105C>G (RAD21) ENSP00000430273.1:p.Phe35Leu
ENST00000517820.1:c.189-1283G>C (UTP23) ENSP00000427767.1:n.189-1283G>C
ENST00000518055.1:c.426C>G (RAD21) ENSP00000428003.1:p.Phe142Leu
ENST00000520733.5:c.46-1283G>C (UTP23) ENSP00000429384.1:n.46-1283G>C
ENST00000521703.5:c.*93-1283G>C (UTP23) ENSP00000428455.1:n.*93-1283G>C
ENST00000523986.5:c.303C>G (RAD21) ENSP00000428513.1:p.Phe101Leu
ENST00000524128.1:c.*93-1283G>C (UTP23) ENSP00000430309.1:n.*93-1283G>C
NM_006265.2:c.1791C>G , LRG_772t1:c.1791C>G (RAD21) NP_006256.1:p.Phe597Leu
XR_928356.1:n.663-1283G>C (UTP23)
NM_006265.3:c.1791C>G (RAD21) MANE Select NP_006256.1:p.Phe597Leu