Canonical Allele Identifier: CA360947442

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2118861
• ClinVar RCV Id: RCV003032806
• dbSNP Id: rs1750760861
• MyVariant Identifiers: chr5:g.131930578C>G (hg19) ; chr5:g.132594886C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594886C>G , CM000667.2:g.132594886C>G	GRCh38
NC_000005.9:g.131930578C>G , CM000667.1:g.131930578C>G	GRCh37
NC_000005.8:g.131958477C>G	NCBI36
NG_021151.1:g.42963C>G
NG_021151.2:g.42910C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1811C>G MANE Select	ENSP00000368100.4:p.Ser604Cys
ENST00000638452.2:c.1514C>G	ENSP00000492349.2:p.Ser505Cys
ENST00000638504.1:n.1480-218C>G
ENST00000638568.2:c.1514C>G	ENSP00000491158.2:p.Ser505Cys
ENST00000639899.1:n.2330C>G
ENST00000640655.2:c.1514C>G	ENSP00000491596.2:p.Ser505Cys
ENST00000651160.1:c.*16-218C>G	ENSP00000498829.1:n.*16-218C>G
ENST00000651658.1:n.2354C>G
ENST00000651723.1:c.*1894C>G	ENSP00000498237.1:n.*1894C>G
ENST00000652016.1:c.*88+209C>G	ENSP00000498267.1:n.*88+209C>G
ENST00000652485.1:c.1844C>G	ENSP00000498973.1:p.Ser615Cys
ENST00000378823.7:c.1811C>G	ENSP00000368100.4:p.Ser604Cys
ENST00000423956.5:c.1653C>G	ENSP00000390971.1:p.Ile551Met
ENST00000453394.5:c.1628C>G	ENSP00000400049.1:p.Ser543Cys
ENST00000533482.5:c.*1437C>G	ENSP00000431225.1:n.*1437C>G
NM_005732.3:c.1811C>G	NP_005723.2:p.Ser604Cys
NM_005732.4:c.1811C>G MANE Select	NP_005723.2:p.Ser604Cys