Canonical Allele Identifier: CA360955886

Gene: RAD50

Linked Data

• ClinVar Variation Id: 480423
• ClinVar RCV Id: RCV000570613
• dbSNP Id: rs866824636
• MyVariant Identifiers: chr5:g.131939723C>T (hg19) ; chr5:g.132604031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604031C>T , CM000667.2:g.132604031C>T	GRCh38
NC_000005.9:g.131939723C>T , CM000667.1:g.131939723C>T	GRCh37
NC_000005.8:g.131967622C>T	NCBI36
NG_021151.1:g.52108C>T
NG_021151.2:g.52055C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2509C>T MANE Select	ENSP00000368100.4:p.His837Tyr
ENST00000638452.2:c.2212C>T	ENSP00000492349.2:p.His738Tyr
ENST00000638504.1:n.2117C>T
ENST00000638568.2:c.2212C>T	ENSP00000491158.2:p.His738Tyr
ENST00000639899.1:n.3028C>T
ENST00000640655.2:c.2212C>T	ENSP00000491596.2:p.His738Tyr
ENST00000651160.1:c.*653C>T	ENSP00000498829.1:n.*653C>T
ENST00000651658.1:n.3052C>T
ENST00000651723.1:c.*2592C>T	ENSP00000498237.1:n.*2592C>T
ENST00000652016.1:c.*726C>T	ENSP00000498267.1:n.*726C>T
ENST00000652485.1:c.2542C>T	ENSP00000498973.1:p.His848Tyr
ENST00000378823.7:c.2509C>T	ENSP00000368100.4:p.His837Tyr
ENST00000423956.5:c.*695C>T	ENSP00000390971.1:n.*695C>T
ENST00000533482.5:c.*2135C>T	ENSP00000431225.1:n.*2135C>T
NM_005732.3:c.2509C>T	NP_005723.2:p.His837Tyr
NM_005732.4:c.2509C>T MANE Select	NP_005723.2:p.His837Tyr