Canonical Allele Identifier: CA2675215449

Gene: RAD50

Linked Data

• gnomAD v4: 5-132556935-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556935G>T , CM000667.2:g.132556935G>T	GRCh38
NC_000005.9:g.131892627G>T , CM000667.1:g.131892627G>T	GRCh37
NC_000005.8:g.131920526G>T	NCBI36
NG_021151.1:g.5012G>T
NG_021151.2:g.4959G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2349G>T	ENSP00000492349.2:n.-168-2349G>T
ENST00000638504.1:n.207-2349G>T
ENST00000638568.2:c.-169+462G>T	ENSP00000491158.2:n.-169+462G>T
ENST00000639899.1:n.290-2349G>T
ENST00000640655.2:c.-168-2349G>T	ENSP00000491596.2:n.-168-2349G>T
ENST00000651541.1:c.-243G>T	ENSP00000498795.1:n.-243G>T
ENST00000416135.5:c.-169+462G>T	ENSP00000389515.1:n.-169+462G>T
NM_005732.3:c.-390G>T	NP_005723.2:n.-390G>T