Canonical Allele Identifier: CA198052

Gene: RAD50

Linked Data

• ClinVar Variation Id: 187599
• ClinVar RCV Id: RCV000167343
• dbSNP Id: rs786203805
• gnomAD v3: 5-132616131-G-T
• gnomAD v4: 5-132616131-G-T
• MyVariant Identifiers: chr5:g.131951823G>T (hg19) ; chr5:g.132616131G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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