Canonical Allele Identifier: CA360946566

Gene: RAD50

Linked Data

• ClinVar Variation Id: 819956
• ClinVar RCV Id: RCV001012926
• dbSNP Id: rs1580994917
• gnomAD v4: 5-132591978-G-T
• MyVariant Identifiers: chr5:g.131927670G>T (hg19) ; chr5:g.132591978G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591978G>T , CM000667.2:g.132591978G>T	GRCh38
NC_000005.9:g.131927670G>T , CM000667.1:g.131927670G>T	GRCh37
NC_000005.8:g.131955569G>T	NCBI36
NG_021151.1:g.40055G>T
NG_021151.2:g.40002G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1737G>T MANE Select	ENSP00000368100.4:p.Trp579Cys
ENST00000638452.2:c.1440G>T	ENSP00000492349.2:p.Trp480Cys
ENST00000638504.1:n.1423G>T
ENST00000638568.2:c.1440G>T	ENSP00000491158.2:p.Trp480Cys
ENST00000639899.1:n.2256G>T
ENST00000640655.2:c.1440G>T	ENSP00000491596.2:p.Trp480Cys
ENST00000651160.1:c.1737G>T	ENSP00000498829.1:p.Trp579Cys
ENST00000651541.1:c.1440G>T	ENSP00000498795.1:p.Trp480Cys
ENST00000651658.1:n.2164G>T
ENST00000651723.1:c.*1820G>T	ENSP00000498237.1:n.*1820G>T
ENST00000652016.1:c.1737G>T	ENSP00000498267.1:p.Trp579Cys
ENST00000652485.1:c.1770G>T	ENSP00000498973.1:p.Trp590Cys
ENST00000378823.7:c.1737G>T	ENSP00000368100.4:p.Trp579Cys
ENST00000423956.5:c.1635+572G>T	ENSP00000390971.1:n.1635+572G>T
ENST00000434288.1:c.232G>T
ENST00000453394.5:c.1554G>T	ENSP00000400049.1:p.Trp518Cys
ENST00000533482.5:c.*1363G>T	ENSP00000431225.1:n.*1363G>T
NM_005732.3:c.1737G>T	NP_005723.2:p.Trp579Cys
NM_005732.4:c.1737G>T MANE Select	NP_005723.2:p.Trp579Cys