Canonical Allele Identifier: CA360964974

Gene: RAD50

Linked Data

• ClinVar Variation Id: 934894
• ClinVar RCV Id: RCV001203376
• dbSNP Id: rs1751214253
• MyVariant Identifiers: chr5:g.131953953A>C (hg19) ; chr5:g.132618261A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618261A>C , CM000667.2:g.132618261A>C	GRCh38
NC_000005.9:g.131953953A>C , CM000667.1:g.131953953A>C	GRCh37
NC_000005.8:g.131981852A>C	NCBI36
NG_021151.1:g.66338A>C
NG_021151.2:g.66285A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3356A>C MANE Select	ENSP00000368100.4:p.Lys1119Thr
ENST00000638452.2:c.3059A>C	ENSP00000492349.2:p.Lys1020Thr
ENST00000638504.1:n.2964A>C
ENST00000638568.2:c.3059A>C	ENSP00000491158.2:p.Lys1020Thr
ENST00000639899.1:n.3875A>C
ENST00000640655.2:c.3059A>C	ENSP00000491596.2:p.Lys1020Thr
ENST00000651249.1:c.192A>C
ENST00000378823.7:c.3356A>C	ENSP00000368100.4:p.Lys1119Thr
ENST00000533482.5:c.*2982A>C	ENSP00000431225.1:n.*2982A>C
NM_005732.3:c.3356A>C	NP_005723.2:p.Lys1119Thr
NM_005732.4:c.3356A>C MANE Select	NP_005723.2:p.Lys1119Thr