Canonical Allele Identifier: CA804005330

Gene: RAD50

Linked Data

• dbSNP Id: rs1285679579
• gnomAD v3: 5-132556952-T-G
• gnomAD v4: 5-132556952-T-G
• MyVariant Identifiers: chr5:g.131892644T>G (hg19) ; chr5:g.132556952T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556952T>G , CM000667.2:g.132556952T>G	GRCh38
NC_000005.9:g.131892644T>G , CM000667.1:g.131892644T>G	GRCh37
NC_000005.8:g.131920543T>G	NCBI36
NG_021151.1:g.5029T>G
NG_021151.2:g.4976T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2332T>G	ENSP00000492349.2:n.-168-2332T>G
ENST00000638504.1:n.207-2332T>G
ENST00000638568.2:c.-169+479T>G	ENSP00000491158.2:n.-169+479T>G
ENST00000639899.1:n.290-2332T>G
ENST00000640655.2:c.-168-2332T>G	ENSP00000491596.2:n.-168-2332T>G
ENST00000651541.1:c.-226T>G	ENSP00000498795.1:n.-226T>G
ENST00000378823.7:c.-373T>G	ENSP00000368100.4:n.-373T>G
ENST00000416135.5:c.-169+479T>G	ENSP00000389515.1:n.-169+479T>G
ENST00000533482.5:c.-373T>G	ENSP00000431225.1:n.-373T>G
NM_005732.3:c.-373T>G	NP_005723.2:n.-373T>G