Canonical Allele Identifier: CA360948056

Gene: RAD50

Linked Data

• ClinVar Variation Id: 820255
• ClinVar RCV Id: RCV001013532
• dbSNP Id: rs1580996501
• MyVariant Identifiers: chr5:g.131930664T>G (hg19) ; chr5:g.132594972T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594972T>G , CM000667.2:g.132594972T>G	GRCh38
NC_000005.9:g.131930664T>G , CM000667.1:g.131930664T>G	GRCh37
NC_000005.8:g.131958563T>G	NCBI36
NG_021151.1:g.43049T>G
NG_021151.2:g.42996T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1897T>G MANE Select	ENSP00000368100.4:p.Cys633Gly
ENST00000638452.2:c.1600T>G	ENSP00000492349.2:p.Cys534Gly
ENST00000638504.1:n.1480-132T>G
ENST00000638568.2:c.1600T>G	ENSP00000491158.2:p.Cys534Gly
ENST00000639899.1:n.2416T>G
ENST00000640655.2:c.1600T>G	ENSP00000491596.2:p.Cys534Gly
ENST00000651160.1:c.*16-132T>G	ENSP00000498829.1:n.*16-132T>G
ENST00000651658.1:n.2440T>G
ENST00000651723.1:c.*1980T>G	ENSP00000498237.1:n.*1980T>G
ENST00000652016.1:c.*89-132T>G	ENSP00000498267.1:n.*89-132T>G
ENST00000652485.1:c.1930T>G	ENSP00000498973.1:p.Cys644Gly
ENST00000378823.7:c.1897T>G	ENSP00000368100.4:p.Cys633Gly
ENST00000423956.5:c.*83T>G	ENSP00000390971.1:n.*83T>G
ENST00000453394.5:c.1714T>G	ENSP00000400049.1:p.Cys572Gly
ENST00000533482.5:c.*1523T>G	ENSP00000431225.1:n.*1523T>G
NM_005732.3:c.1897T>G	NP_005723.2:p.Cys633Gly
NM_005732.4:c.1897T>G MANE Select	NP_005723.2:p.Cys633Gly