Canonical Allele Identifier: CA4852672
Community Standard Title: NM_006265.3(RAD21):c.1888A>G (p.Ile630Val)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116847508T>C , CM000670.2:g.116847508T>C GRCh38
NC_000008.10:g.117859747T>C , CM000670.1:g.117859747T>C GRCh37
NC_000008.9:g.117928928T>C NCBI36
NG_032862.1:g.32359A>G , LRG_772:g.32359A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006265.3:c.1888A>G (RAD21) MANE Select NP_006256.1:p.Ile630Val
ENST00000297338.7:c.1888A>G (RAD21) MANE Select ENSP00000297338.2:p.Ile630Val
NM_006265.2:c.1888A>G , LRG_772t1:c.1888A>G (RAD21) NP_006256.1:p.Ile630Val
ENST00000297338.6:c.1888A>G (RAD21) ENSP00000297338.2:p.Ile630Val
ENST00000517485.6:c.1888A>G (RAD21) ENSP00000427923.2:p.Ile630Val
ENST00000517749.1:c.202A>G (RAD21) ENSP00000430273.1:p.Ile68Val
ENST00000517749.2:c.1888A>G (RAD21) ENSP00000430273.2:p.Ile630Val
ENST00000517820.1:c.189-1380T>C (UTP23) ENSP00000427767.1:n.189-1380T>C
ENST00000518055.1:c.523A>G (RAD21) ENSP00000428003.1:p.Ile175Val
ENST00000519837.6:c.1888A>G (RAD21) ENSP00000430524.2:p.Ile630Val
ENST00000520733.5:c.46-1380T>C (UTP23) ENSP00000429384.1:n.46-1380T>C
ENST00000520992.6:c.1888A>G (RAD21) ENSP00000429342.2:p.Ile630Val
ENST00000521703.5:c.*93-1380T>C (UTP23) ENSP00000428455.1:n.*93-1380T>C
ENST00000522699.2:c.1888A>G (RAD21) ENSP00000428158.2:p.Ile630Val
ENST00000523986.5:c.400A>G (RAD21) ENSP00000428513.1:p.Ile134Val
ENST00000523986.6:n.4857A>G (RAD21)
ENST00000524128.1:c.*93-1380T>C (UTP23) ENSP00000430309.1:n.*93-1380T>C
ENST00000685972.1:n.5191A>G (RAD21)
ENST00000687122.1:n.4716A>G (RAD21)
ENST00000687358.1:c.1888A>G (RAD21) ENSP00000509687.1:p.Ile630Val
ENST00000687902.1:c.*263A>G (RAD21) ENSP00000510729.1:n.*263A>G
ENST00000689124.1:n.2102A>G (RAD21)
ENST00000689154.1:n.1780A>G (RAD21)
ENST00000690166.1:n.6757A>G (RAD21)
XR_928356.1:n.663-1380T>C (UTP23)