Canonical Allele Identifier: CA371990406

Gene: RAD21 UTP23

Linked Data

• dbSNP Id: rs1184663541
• gnomAD v2: 8-117859892-C-G
• gnomAD v4: 8-116847653-C-G
• MyVariant Identifiers: chr8:g.117859892C>G (hg19) ; chr8:g.116847653C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116847653C>G , CM000670.2:g.116847653C>G	GRCh38
NC_000008.10:g.117859892C>G , CM000670.1:g.117859892C>G	GRCh37
NC_000008.9:g.117929073C>G	NCBI36
NG_032862.1:g.32214G>C , LRG_772:g.32214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517485.6:c.1743G>C (RAD21)	ENSP00000427923.2:p.Leu581Phe
ENST00000517749.2:c.1743G>C (RAD21)	ENSP00000430273.2:p.Leu581Phe
ENST00000519837.6:c.1743G>C (RAD21)	ENSP00000430524.2:p.Leu581Phe
ENST00000520992.6:c.1743G>C (RAD21)	ENSP00000429342.2:p.Leu581Phe
ENST00000522699.2:c.1743G>C (RAD21)	ENSP00000428158.2:p.Leu581Phe
ENST00000523986.6:n.4712G>C (RAD21)
ENST00000685972.1:n.5046G>C (RAD21)
ENST00000687122.1:n.4571G>C (RAD21)
ENST00000687358.1:c.1743G>C (RAD21)	ENSP00000509687.1:p.Leu581Phe
ENST00000687902.1:c.*118G>C (RAD21)	ENSP00000510729.1:n.*118G>C
ENST00000689124.1:n.1957G>C (RAD21)
ENST00000689154.1:n.1635G>C (RAD21)
ENST00000690166.1:n.6612G>C (RAD21)
ENST00000297338.7:c.1743G>C (RAD21) MANE Select	ENSP00000297338.2:p.Leu581Phe
ENST00000297338.6:c.1743G>C (RAD21)	ENSP00000297338.2:p.Leu581Phe
ENST00000517749.1:c.57G>C (RAD21)	ENSP00000430273.1:p.Leu19Phe
ENST00000517820.1:c.189-1235C>G (UTP23)	ENSP00000427767.1:n.189-1235C>G
ENST00000518055.1:c.378G>C (RAD21)	ENSP00000428003.1:p.Leu126Phe
ENST00000520733.5:c.46-1235C>G (UTP23)	ENSP00000429384.1:n.46-1235C>G
ENST00000521703.5:c.*93-1235C>G (UTP23)	ENSP00000428455.1:n.*93-1235C>G
ENST00000523986.5:c.255G>C (RAD21)	ENSP00000428513.1:p.Leu85Phe
ENST00000524128.1:c.*93-1235C>G (UTP23)	ENSP00000430309.1:n.*93-1235C>G
NM_006265.2:c.1743G>C , LRG_772t1:c.1743G>C (RAD21)	NP_006256.1:p.Leu581Phe
XR_928356.1:n.663-1235C>G (UTP23)
NM_006265.3:c.1743G>C (RAD21) MANE Select	NP_006256.1:p.Leu581Phe