Canonical Allele Identifier: CA127249255

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1781954
• ClinVar RCV Id: RCV002415371
• dbSNP Id: rs746192180
• gnomAD v4: 5-132594959-G-C
• MyVariant Identifiers: chr5:g.131930651G>C (hg19) ; chr5:g.132594959G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594959G>C , CM000667.2:g.132594959G>C	GRCh38
NC_000005.9:g.131930651G>C , CM000667.1:g.131930651G>C	GRCh37
NC_000005.8:g.131958550G>C	NCBI36
NG_021151.1:g.43036G>C
NG_021151.2:g.42983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1884G>C MANE Select	ENSP00000368100.4:p.Lys628Asn
ENST00000638452.2:c.1587G>C	ENSP00000492349.2:p.Lys529Asn
ENST00000638504.1:n.1480-145G>C
ENST00000638568.2:c.1587G>C	ENSP00000491158.2:p.Lys529Asn
ENST00000639899.1:n.2403G>C
ENST00000640655.2:c.1587G>C	ENSP00000491596.2:p.Lys529Asn
ENST00000651160.1:c.*16-145G>C	ENSP00000498829.1:n.*16-145G>C
ENST00000651658.1:n.2427G>C
ENST00000651723.1:c.*1967G>C	ENSP00000498237.1:n.*1967G>C
ENST00000652016.1:c.*89-145G>C	ENSP00000498267.1:n.*89-145G>C
ENST00000652485.1:c.1917G>C	ENSP00000498973.1:p.Lys639Asn
ENST00000378823.7:c.1884G>C	ENSP00000368100.4:p.Lys628Asn
ENST00000423956.5:c.*70G>C	ENSP00000390971.1:n.*70G>C
ENST00000453394.5:c.1701G>C	ENSP00000400049.1:p.Lys567Asn
ENST00000533482.5:c.*1510G>C	ENSP00000431225.1:n.*1510G>C
NM_005732.3:c.1884G>C	NP_005723.2:p.Lys628Asn
NM_005732.4:c.1884G>C MANE Select	NP_005723.2:p.Lys628Asn