Canonical Allele Identifier: CA3404987

Gene: RAD50

Linked Data

• ClinVar Variation Id: 231373
• ClinVar RCV Id: RCV000213774
• dbSNP Id: rs375845724
• ExAC: 5:131915106 A / G
• gnomAD v2: 5-131915106-A-G
• gnomAD v3: 5-132579414-A-G
• gnomAD v4: 5-132579414-A-G
• MyVariant Identifiers: chr5:g.131915106A>G (hg19) ; chr5:g.132579414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579414A>G , CM000667.2:g.132579414A>G	GRCh38
NC_000005.9:g.131915106A>G , CM000667.1:g.131915106A>G	GRCh37
NC_000005.8:g.131943005A>G	NCBI36
NG_021151.1:g.27491A>G
NG_021151.2:g.27438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.463A>G MANE Select	ENSP00000368100.4:p.Ile155Val
ENST00000638452.2:c.166A>G	ENSP00000492349.2:p.Ile56Val
ENST00000638504.1:n.442+3486A>G
ENST00000638568.2:c.166A>G	ENSP00000491158.2:p.Ile56Val
ENST00000639899.1:n.623A>G
ENST00000640655.2:c.166A>G	ENSP00000491596.2:p.Ile56Val
ENST00000651160.1:c.463A>G	ENSP00000498829.1:p.Ile155Val
ENST00000651541.1:c.166A>G	ENSP00000498795.1:p.Ile56Val
ENST00000651658.1:n.531A>G
ENST00000651723.1:c.*546A>G	ENSP00000498237.1:n.*546A>G
ENST00000652016.1:c.463A>G	ENSP00000498267.1:p.Ile155Val
ENST00000652485.1:c.463A>G	ENSP00000498973.1:p.Ile155Val
ENST00000378823.7:c.463A>G	ENSP00000368100.4:p.Ile155Val
ENST00000416135.5:c.166A>G	ENSP00000389515.1:p.Ile56Val
ENST00000423956.5:c.463A>G	ENSP00000390971.1:p.Ile155Val
ENST00000453394.5:c.463A>G	ENSP00000400049.1:p.Ile155Val
ENST00000533482.5:c.*89A>G	ENSP00000431225.1:n.*89A>G
NM_005732.3:c.463A>G	NP_005723.2:p.Ile155Val
NM_005732.4:c.463A>G MANE Select	NP_005723.2:p.Ile155Val