Canonical Allele Identifier: CA360960805

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1052971
• ClinVar RCV Id: RCV001361248
• dbSNP Id: rs2149849887
• MyVariant Identifiers: chr5:g.131945050G>A (hg19) ; chr5:g.132609358G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609358G>A , CM000667.2:g.132609358G>A	GRCh38
NC_000005.9:g.131945050G>A , CM000667.1:g.131945050G>A	GRCh37
NC_000005.8:g.131972949G>A	NCBI36
NG_021151.1:g.57435G>A
NG_021151.2:g.57382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2998G>A MANE Select	ENSP00000368100.4:p.Asp1000Asn
ENST00000638452.2:c.2701G>A	ENSP00000492349.2:p.Asp901Asn
ENST00000638504.1:n.2606G>A
ENST00000638568.2:c.2701G>A	ENSP00000491158.2:p.Asp901Asn
ENST00000639899.1:n.3517G>A
ENST00000640655.2:c.2701G>A	ENSP00000491596.2:p.Asp901Asn
ENST00000651723.1:c.*3081G>A	ENSP00000498237.1:n.*3081G>A
ENST00000378823.7:c.2998G>A	ENSP00000368100.4:p.Asp1000Asn
ENST00000533482.5:c.*2624G>A	ENSP00000431225.1:n.*2624G>A
NM_005732.3:c.2998G>A	NP_005723.2:p.Asp1000Asn
NM_005732.4:c.2998G>A MANE Select	NP_005723.2:p.Asp1000Asn