Canonical Allele Identifier: CA360961121

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1799081
• ClinVar RCV Id: RCV002438146
• dbSNP Id: rs369638979
• gnomAD v3: 5-132609395-A-T
• gnomAD v4: 5-132609395-A-T
• MyVariant Identifiers: chr5:g.131945087A>T (hg19) ; chr5:g.132609395A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609395A>T , CM000667.2:g.132609395A>T	GRCh38
NC_000005.9:g.131945087A>T , CM000667.1:g.131945087A>T	GRCh37
NC_000005.8:g.131972986A>T	NCBI36
NG_021151.1:g.57472A>T
NG_021151.2:g.57419A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3035A>T MANE Select	ENSP00000368100.4:p.Lys1012Met
ENST00000638452.2:c.2738A>T	ENSP00000492349.2:p.Lys913Met
ENST00000638504.1:n.2643A>T
ENST00000638568.2:c.2738A>T	ENSP00000491158.2:p.Lys913Met
ENST00000639899.1:n.3554A>T
ENST00000640655.2:c.2738A>T	ENSP00000491596.2:p.Lys913Met
ENST00000651723.1:c.*3118A>T	ENSP00000498237.1:n.*3118A>T
ENST00000378823.7:c.3035A>T	ENSP00000368100.4:p.Lys1012Met
ENST00000533482.5:c.*2661A>T	ENSP00000431225.1:n.*2661A>T
NM_005732.3:c.3035A>T	NP_005723.2:p.Lys1012Met
NM_005732.4:c.3035A>T MANE Select	NP_005723.2:p.Lys1012Met