Canonical Allele Identifier: CA360964819

Gene: RAD50

Linked Data

• ClinVar Variation Id: 582497
• ClinVar RCV Id: RCV000706585 ; RCV003460985
• dbSNP Id: rs1561650887
• COSMIC: COSM4159405 ; COSM4159406
• MyVariant Identifiers: chr5:g.131953908A>G (hg19) ; chr5:g.132618216A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618216A>G , CM000667.2:g.132618216A>G	GRCh38
NC_000005.9:g.131953908A>G , CM000667.1:g.131953908A>G	GRCh37
NC_000005.8:g.131981807A>G	NCBI36
NG_021151.1:g.66293A>G
NG_021151.2:g.66240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3311A>G MANE Select	ENSP00000368100.4:p.Tyr1104Cys
ENST00000638452.2:c.3014A>G	ENSP00000492349.2:p.Tyr1005Cys
ENST00000638504.1:n.2919A>G
ENST00000638568.2:c.3014A>G	ENSP00000491158.2:p.Tyr1005Cys
ENST00000639899.1:n.3830A>G
ENST00000640655.2:c.3014A>G	ENSP00000491596.2:p.Tyr1005Cys
ENST00000651249.1:c.147A>G
ENST00000378823.7:c.3311A>G	ENSP00000368100.4:p.Tyr1104Cys
ENST00000533482.5:c.*2937A>G	ENSP00000431225.1:n.*2937A>G
NM_005732.3:c.3311A>G	NP_005723.2:p.Tyr1104Cys
NM_005732.4:c.3311A>G MANE Select	NP_005723.2:p.Tyr1104Cys