Canonical Allele Identifier: CA446362174

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2451424
• ClinVar RCV Id: RCV003182440
• gnomAD v4: 5-132595031-A-G
• MyVariant Identifiers: chr5:g.131930723A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595031A>G , CM000667.2:g.132595031A>G	GRCh38
NC_000005.9:g.131930723A>G , CM000667.1:g.131930723A>G	GRCh37
NC_000005.8:g.131958622A>G	NCBI36
NG_021151.1:g.43108A>G
NG_021151.2:g.43055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1956A>G MANE Select	ENSP00000368100.4:p.Ser652=
ENST00000638452.2:c.1659A>G	ENSP00000492349.2:p.Ser553=
ENST00000638504.1:n.1480-73A>G
ENST00000638568.2:c.1659A>G	ENSP00000491158.2:p.Ser553=
ENST00000639899.1:n.2475A>G
ENST00000640655.2:c.1659A>G	ENSP00000491596.2:p.Ser553=
ENST00000651160.1:c.*16-73A>G	ENSP00000498829.1:n.*16-73A>G
ENST00000651658.1:n.2499A>G
ENST00000651723.1:c.*2039A>G	ENSP00000498237.1:n.*2039A>G
ENST00000652016.1:c.*89-73A>G	ENSP00000498267.1:n.*89-73A>G
ENST00000652485.1:c.1989A>G	ENSP00000498973.1:p.Ser663=
ENST00000378823.7:c.1956A>G	ENSP00000368100.4:p.Ser652=
ENST00000423956.5:c.*142A>G	ENSP00000390971.1:n.*142A>G
ENST00000453394.5:c.1773A>G	ENSP00000400049.1:p.Ser591=
ENST00000533482.5:c.*1582A>G	ENSP00000431225.1:n.*1582A>G
NM_005732.3:c.1956A>G	NP_005723.2:p.Ser652=
NM_005732.4:c.1956A>G MANE Select	NP_005723.2:p.Ser652=