Canonical Allele Identifier: CA10578541

Gene: RAD50

Linked Data

• ClinVar Variation Id: 234100
• ClinVar RCV Id: RCV000223519
• dbSNP Id: rs876660848
• gnomAD v2: 5-131930588-T-C
• gnomAD v4: 5-132594896-T-C
• MyVariant Identifiers: chr5:g.131930588T>C (hg19) ; chr5:g.132594896T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594896T>C , CM000667.2:g.132594896T>C	GRCh38
NC_000005.9:g.131930588T>C , CM000667.1:g.131930588T>C	GRCh37
NC_000005.8:g.131958487T>C	NCBI36
NG_021151.1:g.42973T>C
NG_021151.2:g.42920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1821T>C MANE Select	ENSP00000368100.4:p.Asn607=
ENST00000638452.2:c.1524T>C	ENSP00000492349.2:p.Asn508=
ENST00000638504.1:n.1480-208T>C
ENST00000638568.2:c.1524T>C	ENSP00000491158.2:p.Asn508=
ENST00000639899.1:n.2340T>C
ENST00000640655.2:c.1524T>C	ENSP00000491596.2:p.Asn508=
ENST00000651160.1:c.*16-208T>C	ENSP00000498829.1:n.*16-208T>C
ENST00000651658.1:n.2364T>C
ENST00000651723.1:c.*1904T>C	ENSP00000498237.1:n.*1904T>C
ENST00000652016.1:c.*89-208T>C	ENSP00000498267.1:n.*89-208T>C
ENST00000652485.1:c.1854T>C	ENSP00000498973.1:p.Asn618=
ENST00000378823.7:c.1821T>C	ENSP00000368100.4:p.Asn607=
ENST00000423956.5:c.*7T>C	ENSP00000390971.1:n.*7T>C
ENST00000453394.5:c.1638T>C	ENSP00000400049.1:p.Asn546=
ENST00000533482.5:c.*1447T>C	ENSP00000431225.1:n.*1447T>C
NM_005732.3:c.1821T>C	NP_005723.2:p.Asn607=
NM_005732.4:c.1821T>C MANE Select	NP_005723.2:p.Asn607=