Canonical Allele Identifier: CA804009088

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1484765
• ClinVar RCV Id: RCV002008153
• dbSNP Id: rs1204782492
• gnomAD v3: 5-132604790-A-G
• gnomAD v4: 5-132604790-A-G
• MyVariant Identifiers: chr5:g.131940482A>G (hg19) ; chr5:g.132604790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604790A>G , CM000667.2:g.132604790A>G	GRCh38
NC_000005.9:g.131940482A>G , CM000667.1:g.131940482A>G	GRCh37
NC_000005.8:g.131968381A>G	NCBI36
NG_021151.1:g.52867A>G
NG_021151.2:g.52814A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2525-16A>G MANE Select	ENSP00000368100.4:n.2525-16A>G
ENST00000638452.2:c.2228-16A>G	ENSP00000492349.2:n.2228-16A>G
ENST00000638504.1:n.2133-16A>G
ENST00000638568.2:c.2228-16A>G	ENSP00000491158.2:n.2228-16A>G
ENST00000639899.1:n.3044-16A>G
ENST00000640655.2:c.2228-16A>G	ENSP00000491596.2:n.2228-16A>G
ENST00000651160.1:c.*669-16A>G	ENSP00000498829.1:n.*669-16A>G
ENST00000651723.1:c.*2608-16A>G	ENSP00000498237.1:n.*2608-16A>G
ENST00000652016.1:c.*742-16A>G	ENSP00000498267.1:n.*742-16A>G
ENST00000652485.1:c.2558-16A>G	ENSP00000498973.1:n.2558-16A>G
ENST00000378823.7:c.2525-16A>G	ENSP00000368100.4:n.2525-16A>G
ENST00000423956.5:c.*711-16A>G	ENSP00000390971.1:n.*711-16A>G
ENST00000533482.5:c.*2151-16A>G	ENSP00000431225.1:n.*2151-16A>G
NM_005732.3:c.2525-16A>G	NP_005723.2:n.2525-16A>G
NM_005732.4:c.2525-16A>G MANE Select	NP_005723.2:n.2525-16A>G