Canonical Allele Identifier: CA2675215508

Gene: RAD50

Linked Data

• gnomAD v4: 5-132556969-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556969A>C , CM000667.2:g.132556969A>C	GRCh38
NC_000005.9:g.131892661A>C , CM000667.1:g.131892661A>C	GRCh37
NC_000005.8:g.131920560A>C	NCBI36
NG_021151.1:g.5046A>C
NG_021151.2:g.4993A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2315A>C	ENSP00000492349.2:n.-168-2315A>C
ENST00000638504.1:n.207-2315A>C
ENST00000638568.2:c.-169+496A>C	ENSP00000491158.2:n.-169+496A>C
ENST00000639899.1:n.290-2315A>C
ENST00000640655.2:c.-168-2315A>C	ENSP00000491596.2:n.-168-2315A>C
ENST00000651541.1:c.-209A>C	ENSP00000498795.1:n.-209A>C
ENST00000378823.7:c.-356A>C	ENSP00000368100.4:n.-356A>C
ENST00000416135.5:c.-169+496A>C	ENSP00000389515.1:n.-169+496A>C
ENST00000533482.5:c.-356A>C	ENSP00000431225.1:n.-356A>C
NM_005732.3:c.-356A>C	NP_005723.2:n.-356A>C