Canonical Allele Identifier: CA371988334

Gene: RAD21 UTP23

Linked Data

• ClinVar Variation Id: 2582634
• ClinVar RCV Id: RCV003333651
• MyVariant Identifiers: chr8:g.117859745A>C (hg19) ; chr8:g.116847506A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116847506A>C , CM000670.2:g.116847506A>C	GRCh38
NC_000008.10:g.117859745A>C , CM000670.1:g.117859745A>C	GRCh37
NC_000008.9:g.117928926A>C	NCBI36
NG_032862.1:g.32361T>G , LRG_772:g.32361T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000517485.6:c.1890T>G (RAD21)	ENSP00000427923.2:p.Ile630Met
ENST00000517749.2:c.1890T>G (RAD21)	ENSP00000430273.2:p.Ile630Met
ENST00000519837.6:c.1890T>G (RAD21)	ENSP00000430524.2:p.Ile630Met
ENST00000520992.6:c.1890T>G (RAD21)	ENSP00000429342.2:p.Ile630Met
ENST00000522699.2:c.1890T>G (RAD21)	ENSP00000428158.2:p.Ile630Met
ENST00000523986.6:n.4859T>G (RAD21)
ENST00000685972.1:n.5193T>G (RAD21)
ENST00000687122.1:n.4718T>G (RAD21)
ENST00000687358.1:c.1890T>G (RAD21)	ENSP00000509687.1:p.Ile630Met
ENST00000687902.1:c.*265T>G (RAD21)	ENSP00000510729.1:n.*265T>G
ENST00000689124.1:n.2104T>G (RAD21)
ENST00000689154.1:n.1782T>G (RAD21)
ENST00000690166.1:n.6759T>G (RAD21)
ENST00000297338.7:c.1890T>G (RAD21) MANE Select	ENSP00000297338.2:p.Ile630Met
ENST00000297338.6:c.1890T>G (RAD21)	ENSP00000297338.2:p.Ile630Met
ENST00000517749.1:c.204T>G (RAD21)	ENSP00000430273.1:p.Ile68Met
ENST00000517820.1:c.189-1382A>C (UTP23)	ENSP00000427767.1:n.189-1382A>C
ENST00000518055.1:c.525T>G (RAD21)	ENSP00000428003.1:p.Ile175Met
ENST00000520733.5:c.46-1382A>C (UTP23)	ENSP00000429384.1:n.46-1382A>C
ENST00000521703.5:c.*93-1382A>C (UTP23)	ENSP00000428455.1:n.*93-1382A>C
ENST00000523986.5:c.402T>G (RAD21)	ENSP00000428513.1:p.Ile134Met
ENST00000524128.1:c.*93-1382A>C (UTP23)	ENSP00000430309.1:n.*93-1382A>C
NM_006265.2:c.1890T>G , LRG_772t1:c.1890T>G (RAD21)	NP_006256.1:p.Ile630Met
XR_928356.1:n.663-1382A>C (UTP23)
NM_006265.3:c.1890T>G (RAD21) MANE Select	NP_006256.1:p.Ile630Met