Canonical Allele Identifier: CA360955346

Gene: RAD50

Linked Data

• ClinVar Variation Id: 821236
• ClinVar RCV Id: RCV001015447
• dbSNP Id: rs1188759790
• gnomAD v3: 5-132603933-A-G
• gnomAD v4: 5-132603933-A-G
• MyVariant Identifiers: chr5:g.131939625A>G (hg19) ; chr5:g.132603933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603933A>G , CM000667.2:g.132603933A>G	GRCh38
NC_000005.9:g.131939625A>G , CM000667.1:g.131939625A>G	GRCh37
NC_000005.8:g.131967524A>G	NCBI36
NG_021151.1:g.52010A>G
NG_021151.2:g.51957A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2411A>G MANE Select	ENSP00000368100.4:p.Asp804Gly
ENST00000638452.2:c.2114A>G	ENSP00000492349.2:p.Asp705Gly
ENST00000638504.1:n.2019A>G
ENST00000638568.2:c.2114A>G	ENSP00000491158.2:p.Asp705Gly
ENST00000639899.1:n.2930A>G
ENST00000640655.2:c.2114A>G	ENSP00000491596.2:p.Asp705Gly
ENST00000651160.1:c.*555A>G	ENSP00000498829.1:n.*555A>G
ENST00000651658.1:n.2954A>G
ENST00000651723.1:c.*2494A>G	ENSP00000498237.1:n.*2494A>G
ENST00000652016.1:c.*628A>G	ENSP00000498267.1:n.*628A>G
ENST00000652485.1:c.2444A>G	ENSP00000498973.1:p.Asp815Gly
ENST00000378823.7:c.2411A>G	ENSP00000368100.4:p.Asp804Gly
ENST00000423956.5:c.*597A>G	ENSP00000390971.1:n.*597A>G
ENST00000533482.5:c.*2037A>G	ENSP00000431225.1:n.*2037A>G
NM_005732.3:c.2411A>G	NP_005723.2:p.Asp804Gly
NM_005732.4:c.2411A>G MANE Select	NP_005723.2:p.Asp804Gly