Canonical Allele Identifier: CA1081647699

Gene: RAD50

Linked Data

• dbSNP Id: rs1226051595
• gnomAD v3: 5-132556940-A-C
• gnomAD v4: 5-132556940-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556940A>C , CM000667.2:g.132556940A>C	GRCh38
NC_000005.9:g.131892632A>C , CM000667.1:g.131892632A>C	GRCh37
NC_000005.8:g.131920531A>C	NCBI36
NG_021151.1:g.5017A>C
NG_021151.2:g.4964A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2344A>C	ENSP00000492349.2:n.-168-2344A>C
ENST00000638504.1:n.207-2344A>C
ENST00000638568.2:c.-169+467A>C	ENSP00000491158.2:n.-169+467A>C
ENST00000639899.1:n.290-2344A>C
ENST00000640655.2:c.-168-2344A>C	ENSP00000491596.2:n.-168-2344A>C
ENST00000651541.1:c.-238A>C	ENSP00000498795.1:n.-238A>C
ENST00000378823.7:c.-385A>C	ENSP00000368100.4:n.-385A>C
ENST00000416135.5:c.-169+467A>C	ENSP00000389515.1:n.-169+467A>C
ENST00000533482.5:c.-385A>C	ENSP00000431225.1:n.-385A>C
NM_005732.3:c.-385A>C	NP_005723.2:n.-385A>C