Canonical Allele Identifier: CA1081653602

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1957187
• ClinVar RCV Id: RCV002706107
• dbSNP Id: rs1750766524
• gnomAD v3: 5-132595057-C-T
• gnomAD v4: 5-132595057-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595057C>T , CM000667.2:g.132595057C>T	GRCh38
NC_000005.9:g.131930749C>T , CM000667.1:g.131930749C>T	GRCh37
NC_000005.8:g.131958648C>T	NCBI36
NG_021151.1:g.43134C>T
NG_021151.2:g.43081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1969+13C>T MANE Select	ENSP00000368100.4:n.1969+13C>T
ENST00000638452.2:c.1672+13C>T	ENSP00000492349.2:n.1672+13C>T
ENST00000638504.1:n.1480-47C>T
ENST00000638568.2:c.1672+13C>T	ENSP00000491158.2:n.1672+13C>T
ENST00000639899.1:n.2488+13C>T
ENST00000640655.2:c.1672+13C>T	ENSP00000491596.2:n.1672+13C>T
ENST00000651160.1:c.*16-47C>T	ENSP00000498829.1:n.*16-47C>T
ENST00000651658.1:n.2512+13C>T
ENST00000651723.1:c.*2052+13C>T	ENSP00000498237.1:n.*2052+13C>T
ENST00000652016.1:c.*89-47C>T	ENSP00000498267.1:n.*89-47C>T
ENST00000652485.1:c.2002+13C>T	ENSP00000498973.1:n.2002+13C>T
ENST00000378823.7:c.1969+13C>T	ENSP00000368100.4:n.1969+13C>T
ENST00000423956.5:c.*155+13C>T	ENSP00000390971.1:n.*155+13C>T
ENST00000453394.5:c.1786+13C>T	ENSP00000400049.1:n.1786+13C>T
ENST00000533482.5:c.*1595+13C>T	ENSP00000431225.1:n.*1595+13C>T
NM_005732.3:c.1969+13C>T	NP_005723.2:n.1969+13C>T
NM_005732.4:c.1969+13C>T MANE Select	NP_005723.2:n.1969+13C>T