Canonical Allele Identifier: CA3404947

Gene: RAD50

Linked Data

• ClinVar Variation Id: 408387
• ClinVar RCV Id: RCV000459471 ; RCV003477957
• dbSNP Id: rs767424884
• ExAC: 5:131911512 T / G
• gnomAD v2: 5-131911512-T-G
• gnomAD v3: 5-132575820-T-G
• gnomAD v4: 5-132575820-T-G
• MyVariant Identifiers: chr5:g.131911512T>G (hg19) ; chr5:g.132575820T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575820T>G , CM000667.2:g.132575820T>G	GRCh38
NC_000005.9:g.131911512T>G , CM000667.1:g.131911512T>G	GRCh37
NC_000005.8:g.131939411T>G	NCBI36
NG_021151.1:g.23897T>G
NG_021151.2:g.23844T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.257T>G MANE Select	ENSP00000368100.4:p.Phe86Cys
ENST00000638452.2:c.-41T>G	ENSP00000492349.2:n.-41T>G
ENST00000638504.1:n.334T>G
ENST00000638568.2:c.-41T>G	ENSP00000491158.2:n.-41T>G
ENST00000639899.1:n.417T>G
ENST00000640655.2:c.-41T>G	ENSP00000491596.2:n.-41T>G
ENST00000651160.1:c.257T>G	ENSP00000498829.1:p.Phe86Cys
ENST00000651541.1:c.-41T>G	ENSP00000498795.1:n.-41T>G
ENST00000651658.1:n.325T>G
ENST00000651723.1:c.*405T>G	ENSP00000498237.1:n.*405T>G
ENST00000652016.1:c.257T>G	ENSP00000498267.1:p.Phe86Cys
ENST00000652485.1:c.257T>G	ENSP00000498973.1:p.Phe86Cys
ENST00000378823.7:c.257T>G	ENSP00000368100.4:p.Phe86Cys
ENST00000416135.5:c.-41T>G	ENSP00000389515.1:n.-41T>G
ENST00000423956.5:c.257T>G	ENSP00000390971.1:p.Phe86Cys
ENST00000453394.5:c.257T>G	ENSP00000400049.1:p.Phe86Cys
ENST00000533482.5:c.257T>G	ENSP00000431225.1:p.Phe86Cys
NM_005732.3:c.257T>G	NP_005723.2:p.Phe86Cys
NM_005732.4:c.257T>G MANE Select	NP_005723.2:p.Phe86Cys