Canonical Allele Identifier: CA804005336

Gene: RAD50

Linked Data

• dbSNP Id: rs1405635528
• gnomAD v3: 5-132556960-T-C
• gnomAD v4: 5-132556960-T-C
• MyVariant Identifiers: chr5:g.131892652T>C (hg19) ; chr5:g.132556960T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556960T>C , CM000667.2:g.132556960T>C	GRCh38
NC_000005.9:g.131892652T>C , CM000667.1:g.131892652T>C	GRCh37
NC_000005.8:g.131920551T>C	NCBI36
NG_021151.1:g.5037T>C
NG_021151.2:g.4984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2324T>C	ENSP00000492349.2:n.-168-2324T>C
ENST00000638504.1:n.207-2324T>C
ENST00000638568.2:c.-169+487T>C	ENSP00000491158.2:n.-169+487T>C
ENST00000639899.1:n.290-2324T>C
ENST00000640655.2:c.-168-2324T>C	ENSP00000491596.2:n.-168-2324T>C
ENST00000651541.1:c.-218T>C	ENSP00000498795.1:n.-218T>C
ENST00000378823.7:c.-365T>C	ENSP00000368100.4:n.-365T>C
ENST00000416135.5:c.-169+487T>C	ENSP00000389515.1:n.-169+487T>C
ENST00000533482.5:c.-365T>C	ENSP00000431225.1:n.-365T>C
NM_005732.3:c.-365T>C	NP_005723.2:n.-365T>C