Canonical Allele Identifier: CA371989771

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116847594A>C , CM000670.2:g.116847594A>C GRCh38
NC_000008.10:g.117859833A>C , CM000670.1:g.117859833A>C GRCh37
NC_000008.9:g.117929014A>C NCBI36
NG_032862.1:g.32273T>G , LRG_772:g.32273T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000517485.6:c.1802T>G (RAD21) ENSP00000427923.2:p.Leu601Trp
ENST00000517749.2:c.1802T>G (RAD21) ENSP00000430273.2:p.Leu601Trp
ENST00000519837.6:c.1802T>G (RAD21) ENSP00000430524.2:p.Leu601Trp
ENST00000520992.6:c.1802T>G (RAD21) ENSP00000429342.2:p.Leu601Trp
ENST00000522699.2:c.1802T>G (RAD21) ENSP00000428158.2:p.Leu601Trp
ENST00000523986.6:n.4771T>G (RAD21)
ENST00000685972.1:n.5105T>G (RAD21)
ENST00000687122.1:n.4630T>G (RAD21)
ENST00000687358.1:c.1802T>G (RAD21) ENSP00000509687.1:p.Leu601Trp
ENST00000687902.1:c.*177T>G (RAD21) ENSP00000510729.1:n.*177T>G
ENST00000689124.1:n.2016T>G (RAD21)
ENST00000689154.1:n.1694T>G (RAD21)
ENST00000690166.1:n.6671T>G (RAD21)
ENST00000297338.7:c.1802T>G (RAD21) MANE Select ENSP00000297338.2:p.Leu601Trp
ENST00000297338.6:c.1802T>G (RAD21) ENSP00000297338.2:p.Leu601Trp
ENST00000517749.1:c.116T>G (RAD21) ENSP00000430273.1:p.Leu39Trp
ENST00000517820.1:c.189-1294A>C (UTP23) ENSP00000427767.1:n.189-1294A>C
ENST00000518055.1:c.437T>G (RAD21) ENSP00000428003.1:p.Leu146Trp
ENST00000520733.5:c.46-1294A>C (UTP23) ENSP00000429384.1:n.46-1294A>C
ENST00000521703.5:c.*93-1294A>C (UTP23) ENSP00000428455.1:n.*93-1294A>C
ENST00000523986.5:c.314T>G (RAD21) ENSP00000428513.1:p.Leu105Trp
ENST00000524128.1:c.*93-1294A>C (UTP23) ENSP00000430309.1:n.*93-1294A>C
NM_006265.2:c.1802T>G , LRG_772t1:c.1802T>G (RAD21) NP_006256.1:p.Leu601Trp
XR_928356.1:n.663-1294A>C (UTP23)
NM_006265.3:c.1802T>G (RAD21) MANE Select NP_006256.1:p.Leu601Trp