Canonical Allele Identifier: CA446361687

Gene: RAD50

Linked Data

• ClinVar Variation Id: 484707
• ClinVar RCV Id: RCV000574093
• dbSNP Id: rs1554098482
• gnomAD v4: 5-132591966-G-A
• MyVariant Identifiers: chr5:g.131927658G>A (hg19) ; chr5:g.132591966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591966G>A , CM000667.2:g.132591966G>A	GRCh38
NC_000005.9:g.131927658G>A , CM000667.1:g.131927658G>A	GRCh37
NC_000005.8:g.131955557G>A	NCBI36
NG_021151.1:g.40043G>A
NG_021151.2:g.39990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1725G>A MANE Select	ENSP00000368100.4:p.Gln575=
ENST00000638452.2:c.1428G>A	ENSP00000492349.2:p.Gln476=
ENST00000638504.1:n.1411G>A
ENST00000638568.2:c.1428G>A	ENSP00000491158.2:p.Gln476=
ENST00000639899.1:n.2244G>A
ENST00000640655.2:c.1428G>A	ENSP00000491596.2:p.Gln476=
ENST00000651160.1:c.1725G>A	ENSP00000498829.1:p.Gln575=
ENST00000651541.1:c.1428G>A	ENSP00000498795.1:p.Gln476=
ENST00000651658.1:n.2152G>A
ENST00000651723.1:c.*1808G>A	ENSP00000498237.1:n.*1808G>A
ENST00000652016.1:c.1725G>A	ENSP00000498267.1:p.Gln575=
ENST00000652485.1:c.1758G>A	ENSP00000498973.1:p.Gln586=
ENST00000378823.7:c.1725G>A	ENSP00000368100.4:p.Gln575=
ENST00000423956.5:c.1635+560G>A	ENSP00000390971.1:n.1635+560G>A
ENST00000434288.1:c.220G>A
ENST00000453394.5:c.1542G>A	ENSP00000400049.1:p.Gln514=
ENST00000533482.5:c.*1351G>A	ENSP00000431225.1:n.*1351G>A
NM_005732.3:c.1725G>A	NP_005723.2:p.Gln575=
NM_005732.4:c.1725G>A MANE Select	NP_005723.2:p.Gln575=