Canonical Allele Identifier: CA360963999

Gene: RAD50

Linked Data

• ClinVar Variation Id: 480468
• ClinVar RCV Id: RCV000571089
• dbSNP Id: rs786203805
• MyVariant Identifiers: chr5:g.131951823G>C (hg19) ; chr5:g.132616131G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132616131G>C , CM000667.2:g.132616131G>C	GRCh38
NC_000005.9:g.131951823G>C , CM000667.1:g.131951823G>C	GRCh37
NC_000005.8:g.131979722G>C	NCBI36
NG_021151.1:g.64208G>C
NG_021151.2:g.64155G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3164+1G>C MANE Select	ENSP00000368100.4:n.3164+1G>C
ENST00000638452.2:c.2867+1G>C	ENSP00000492349.2:n.2867+1G>C
ENST00000638504.1:n.2772+1G>C
ENST00000638568.2:c.2867+1G>C	ENSP00000491158.2:n.2867+1G>C
ENST00000639899.1:n.3683+1G>C
ENST00000640655.2:c.2867+1G>C	ENSP00000491596.2:n.2867+1G>C
ENST00000378823.7:c.3164+1G>C	ENSP00000368100.4:n.3164+1G>C
ENST00000533482.5:c.*2790+1G>C	ENSP00000431225.1:n.*2790+1G>C
NM_005732.3:c.3164+1G>C	NP_005723.2:n.3164+1G>C
NM_005732.4:c.3164+1G>C MANE Select	NP_005723.2:n.3164+1G>C