Canonical Allele Identifier: CA658796645

Gene: RAD50

Linked Data

• ClinVar Variation Id: 527407
• ClinVar RCV Id: RCV000632266
• dbSNP Id: rs1554099400
• gnomAD v4: 5-132609403-C-T
• MyVariant Identifiers: chr5:g.131945095C>T (hg19) ; chr5:g.132609403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609403C>T , CM000667.2:g.132609403C>T	GRCh38
NC_000005.9:g.131945095C>T , CM000667.1:g.131945095C>T	GRCh37
NC_000005.8:g.131972994C>T	NCBI36
NG_021151.1:g.57480C>T
NG_021151.2:g.57427C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3036+7C>T MANE Select	ENSP00000368100.4:n.3036+7C>T
ENST00000638452.2:c.2739+7C>T	ENSP00000492349.2:n.2739+7C>T
ENST00000638504.1:n.2644+7C>T
ENST00000638568.2:c.2739+7C>T	ENSP00000491158.2:n.2739+7C>T
ENST00000639899.1:n.3555+7C>T
ENST00000640655.2:c.2739+7C>T	ENSP00000491596.2:n.2739+7C>T
ENST00000651723.1:c.*3119+7C>T	ENSP00000498237.1:n.*3119+7C>T
ENST00000378823.7:c.3036+7C>T	ENSP00000368100.4:n.3036+7C>T
ENST00000533482.5:c.*2662+7C>T	ENSP00000431225.1:n.*2662+7C>T
NM_005732.3:c.3036+7C>T	NP_005723.2:n.3036+7C>T
NM_005732.4:c.3036+7C>T MANE Select	NP_005723.2:n.3036+7C>T