Canonical Allele Identifier: CA360946283

Gene: RAD50

Linked Data

• ClinVar Variation Id: 658366
• ClinVar RCV Id: RCV000815180
• dbSNP Id: rs1580994761
• gnomAD v4: 5-132591881-A-G
• MyVariant Identifiers: chr5:g.131927573A>G (hg19) ; chr5:g.132591881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591881A>G , CM000667.2:g.132591881A>G	GRCh38
NC_000005.9:g.131927573A>G , CM000667.1:g.131927573A>G	GRCh37
NC_000005.8:g.131955472A>G	NCBI36
NG_021151.1:g.39958A>G
NG_021151.2:g.39905A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1640A>G MANE Select	ENSP00000368100.4:p.Asp547Gly
ENST00000638452.2:c.1343A>G	ENSP00000492349.2:p.Asp448Gly
ENST00000638504.1:n.1326A>G
ENST00000638568.2:c.1343A>G	ENSP00000491158.2:p.Asp448Gly
ENST00000639899.1:n.2159A>G
ENST00000640655.2:c.1343A>G	ENSP00000491596.2:p.Asp448Gly
ENST00000651160.1:c.1640A>G	ENSP00000498829.1:p.Asp547Gly
ENST00000651541.1:c.1343A>G	ENSP00000498795.1:p.Asp448Gly
ENST00000651658.1:n.2067A>G
ENST00000651723.1:c.*1723A>G	ENSP00000498237.1:n.*1723A>G
ENST00000652016.1:c.1640A>G	ENSP00000498267.1:p.Asp547Gly
ENST00000652485.1:c.1673A>G	ENSP00000498973.1:p.Asp558Gly
ENST00000378823.7:c.1640A>G	ENSP00000368100.4:p.Asp547Gly
ENST00000423956.5:c.1635+475A>G	ENSP00000390971.1:n.1635+475A>G
ENST00000434288.1:c.135A>G
ENST00000453394.5:c.1457A>G	ENSP00000400049.1:p.Asp486Gly
ENST00000533482.5:c.*1266A>G	ENSP00000431225.1:n.*1266A>G
NM_005732.3:c.1640A>G	NP_005723.2:p.Asp547Gly
NM_005732.4:c.1640A>G MANE Select	NP_005723.2:p.Asp547Gly