Canonical Allele Identifier: CA2675215431

Gene: RAD50

Linked Data

• gnomAD v4: 5-132556925-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556925T>C , CM000667.2:g.132556925T>C	GRCh38
NC_000005.9:g.131892617T>C , CM000667.1:g.131892617T>C	GRCh37
NC_000005.8:g.131920516T>C	NCBI36
NG_021151.1:g.5002T>C
NG_021151.2:g.4949T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2359T>C	ENSP00000492349.2:n.-168-2359T>C
ENST00000638504.1:n.207-2359T>C
ENST00000638568.2:c.-169+452T>C	ENSP00000491158.2:n.-169+452T>C
ENST00000639899.1:n.290-2359T>C
ENST00000640655.2:c.-168-2359T>C	ENSP00000491596.2:n.-168-2359T>C
ENST00000416135.5:c.-169+452T>C	ENSP00000389515.1:n.-169+452T>C
NM_005732.3:c.-400T>C	NP_005723.2:n.-400T>C