Canonical Allele Identifier: CA230707

Gene: RAD50

Linked Data

• ClinVar Variation Id: 126991
• ClinVar RCV Id: RCV000114857
• dbSNP Id: rs104895040
• gnomAD v3: 5-132556973-G-A
• gnomAD v4: 5-132556973-G-A
• MyVariant Identifiers: chr5:g.131892665G>A (hg19) ; chr5:g.132556973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556973G>A , CM000667.2:g.132556973G>A	GRCh38
NC_000005.9:g.131892665G>A , CM000667.1:g.131892665G>A	GRCh37
NC_000005.8:g.131920564G>A	NCBI36
NG_021151.1:g.5050G>A
NG_021151.2:g.4997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2311G>A	ENSP00000492349.2:n.-168-2311G>A
ENST00000638504.1:n.207-2311G>A
ENST00000638568.2:c.-169+500G>A	ENSP00000491158.2:n.-169+500G>A
ENST00000639899.1:n.290-2311G>A
ENST00000640655.2:c.-168-2311G>A	ENSP00000491596.2:n.-168-2311G>A
ENST00000651541.1:c.-205G>A	ENSP00000498795.1:n.-205G>A
ENST00000378823.7:c.-352G>A	ENSP00000368100.4:n.-352G>A
ENST00000416135.5:c.-169+500G>A	ENSP00000389515.1:n.-169+500G>A
ENST00000533482.5:c.-352G>A	ENSP00000431225.1:n.-352G>A
NM_005732.3:c.-352G>A	NP_005723.2:n.-352G>A