Canonical Allele Identifier: CA2675215440

Gene: RAD50

Linked Data

• gnomAD v4: 5-132556930-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556930G>A , CM000667.2:g.132556930G>A	GRCh38
NC_000005.9:g.131892622G>A , CM000667.1:g.131892622G>A	GRCh37
NC_000005.8:g.131920521G>A	NCBI36
NG_021151.1:g.5007G>A
NG_021151.2:g.4954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2354G>A	ENSP00000492349.2:n.-168-2354G>A
ENST00000638504.1:n.207-2354G>A
ENST00000638568.2:c.-169+457G>A	ENSP00000491158.2:n.-169+457G>A
ENST00000639899.1:n.290-2354G>A
ENST00000640655.2:c.-168-2354G>A	ENSP00000491596.2:n.-168-2354G>A
ENST00000651541.1:c.-248G>A	ENSP00000498795.1:n.-248G>A
ENST00000416135.5:c.-169+457G>A	ENSP00000389515.1:n.-169+457G>A
NM_005732.3:c.-395G>A	NP_005723.2:n.-395G>A