Canonical Allele Identifier: CA3405430

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1925111
• ClinVar RCV Id: RCV002625905
• dbSNP Id: rs765674469
• ExAC: 5:131940550 G / T
• gnomAD v2: 5-131940550-G-T
• gnomAD v4: 5-132604858-G-T
• MyVariant Identifiers: chr5:g.131940550G>T (hg19) ; chr5:g.132604858G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604858G>T , CM000667.2:g.132604858G>T	GRCh38
NC_000005.9:g.131940550G>T , CM000667.1:g.131940550G>T	GRCh37
NC_000005.8:g.131968449G>T	NCBI36
NG_021151.1:g.52935G>T
NG_021151.2:g.52882G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2577G>T MANE Select	ENSP00000368100.4:p.Gln859His
ENST00000638452.2:c.2280G>T	ENSP00000492349.2:p.Gln760His
ENST00000638504.1:n.2185G>T
ENST00000638568.2:c.2280G>T	ENSP00000491158.2:p.Gln760His
ENST00000639899.1:n.3096G>T
ENST00000640655.2:c.2280G>T	ENSP00000491596.2:p.Gln760His
ENST00000651160.1:c.*721G>T	ENSP00000498829.1:n.*721G>T
ENST00000651723.1:c.*2660G>T	ENSP00000498237.1:n.*2660G>T
ENST00000652016.1:c.*794G>T	ENSP00000498267.1:n.*794G>T
ENST00000652485.1:c.2610G>T	ENSP00000498973.1:p.Gln870His
ENST00000378823.7:c.2577G>T	ENSP00000368100.4:p.Gln859His
ENST00000423956.5:c.*763G>T	ENSP00000390971.1:n.*763G>T
ENST00000533482.5:c.*2203G>T	ENSP00000431225.1:n.*2203G>T
NM_005732.3:c.2577G>T	NP_005723.2:p.Gln859His
NM_005732.4:c.2577G>T MANE Select	NP_005723.2:p.Gln859His