Canonical Allele Identifier: CA446364807

Gene: RAD50

Linked Data

• ClinVar Variation Id: 753862
• ClinVar RCV Id: RCV001419866
• dbSNP Id: rs1581009384
• MyVariant Identifiers: chr5:g.131953795T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618103T>C , CM000667.2:g.132618103T>C	GRCh38
NC_000005.9:g.131953795T>C , CM000667.1:g.131953795T>C	GRCh37
NC_000005.8:g.131981694T>C	NCBI36
NG_021151.1:g.66180T>C
NG_021151.2:g.66127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3198T>C MANE Select	ENSP00000368100.4:p.Asn1066=
ENST00000638452.2:c.2901T>C	ENSP00000492349.2:p.Asn967=
ENST00000638504.1:n.2806T>C
ENST00000638568.2:c.2901T>C	ENSP00000491158.2:p.Asn967=
ENST00000639899.1:n.3717T>C
ENST00000640655.2:c.2901T>C	ENSP00000491596.2:p.Asn967=
ENST00000651249.1:c.34T>C
ENST00000378823.7:c.3198T>C	ENSP00000368100.4:p.Asn1066=
ENST00000533482.5:c.*2824T>C	ENSP00000431225.1:n.*2824T>C
NM_005732.3:c.3198T>C	NP_005723.2:p.Asn1066=
NM_005732.4:c.3198T>C MANE Select	NP_005723.2:p.Asn1066=