Canonical Allele Identifier: CA562772503

Gene: RAD50

Linked Data

• dbSNP Id: rs1405184349
• gnomAD v2: 5-131892597-A-G
• gnomAD v3: 5-132556905-A-G
• gnomAD v4: 5-132556905-A-G
• MyVariant Identifiers: chr5:g.131892597A>G (hg19) ; chr5:g.132556905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556905A>G , CM000667.2:g.132556905A>G	GRCh38
NC_000005.9:g.131892597A>G , CM000667.1:g.131892597A>G	GRCh37
NC_000005.8:g.131920496A>G	NCBI36
NG_021151.1:g.4982A>G
NG_021151.2:g.4929A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2379A>G	ENSP00000492349.2:n.-168-2379A>G
ENST00000638504.1:n.207-2379A>G
ENST00000638568.2:c.-169+432A>G	ENSP00000491158.2:n.-169+432A>G
ENST00000639899.1:n.290-2379A>G
ENST00000640655.2:c.-168-2379A>G	ENSP00000491596.2:n.-168-2379A>G
ENST00000416135.5:c.-169+432A>G	ENSP00000389515.1:n.-169+432A>G