Canonical Allele Identifier: CA563057534

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1099333
• ClinVar RCV Id: RCV001421578
• dbSNP Id: rs1186527495
• gnomAD v2: 5-131927562-C-T
• gnomAD v4: 5-132591870-C-T
• MyVariant Identifiers: chr5:g.131927562C>T (hg19) ; chr5:g.132591870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591870C>T , CM000667.2:g.132591870C>T	GRCh38
NC_000005.9:g.131927562C>T , CM000667.1:g.131927562C>T	GRCh37
NC_000005.8:g.131955461C>T	NCBI36
NG_021151.1:g.39947C>T
NG_021151.2:g.39894C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1636-7C>T MANE Select	ENSP00000368100.4:n.1636-7C>T
ENST00000638452.2:c.1339-7C>T	ENSP00000492349.2:n.1339-7C>T
ENST00000638504.1:n.1322-7C>T
ENST00000638568.2:c.1339-7C>T	ENSP00000491158.2:n.1339-7C>T
ENST00000639899.1:n.2155-7C>T
ENST00000640655.2:c.1339-7C>T	ENSP00000491596.2:n.1339-7C>T
ENST00000651160.1:c.1636-7C>T	ENSP00000498829.1:n.1636-7C>T
ENST00000651541.1:c.1339-7C>T	ENSP00000498795.1:n.1339-7C>T
ENST00000651658.1:n.2063-7C>T
ENST00000651723.1:c.*1719-7C>T	ENSP00000498237.1:n.*1719-7C>T
ENST00000652016.1:c.1636-7C>T	ENSP00000498267.1:n.1636-7C>T
ENST00000652485.1:c.1669-7C>T	ENSP00000498973.1:n.1669-7C>T
ENST00000378823.7:c.1636-7C>T	ENSP00000368100.4:n.1636-7C>T
ENST00000423956.5:c.1635+464C>T	ENSP00000390971.1:n.1635+464C>T
ENST00000434288.1:c.131-7C>T
ENST00000453394.5:c.1453-7C>T	ENSP00000400049.1:n.1453-7C>T
ENST00000533482.5:c.*1262-7C>T	ENSP00000431225.1:n.*1262-7C>T
NM_005732.3:c.1636-7C>T	NP_005723.2:n.1636-7C>T
NM_005732.4:c.1636-7C>T MANE Select	NP_005723.2:n.1636-7C>T