Canonical Allele Identifier: CA360960738

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1443222
• ClinVar RCV Id: RCV001953390
• dbSNP Id: rs2149849881
• MyVariant Identifiers: chr5:g.131945039A>G (hg19) ; chr5:g.132609347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609347A>G , CM000667.2:g.132609347A>G	GRCh38
NC_000005.9:g.131945039A>G , CM000667.1:g.131945039A>G	GRCh37
NC_000005.8:g.131972938A>G	NCBI36
NG_021151.1:g.57424A>G
NG_021151.2:g.57371A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2987A>G MANE Select	ENSP00000368100.4:p.Lys996Arg
ENST00000638452.2:c.2690A>G	ENSP00000492349.2:p.Lys897Arg
ENST00000638504.1:n.2595A>G
ENST00000638568.2:c.2690A>G	ENSP00000491158.2:p.Lys897Arg
ENST00000639899.1:n.3506A>G
ENST00000640655.2:c.2690A>G	ENSP00000491596.2:p.Lys897Arg
ENST00000651723.1:c.*3070A>G	ENSP00000498237.1:n.*3070A>G
ENST00000378823.7:c.2987A>G	ENSP00000368100.4:p.Lys996Arg
ENST00000533482.5:c.*2613A>G	ENSP00000431225.1:n.*2613A>G
NM_005732.3:c.2987A>G	NP_005723.2:p.Lys996Arg
NM_005732.4:c.2987A>G MANE Select	NP_005723.2:p.Lys996Arg