Canonical Allele Identifier: CA127253466

Gene: RAD50

Linked Data

• dbSNP Id: rs982060639
• gnomAD v4: 5-132556937-C-G
• MyVariant Identifiers: chr5:g.131892629C>G (hg19) ; chr5:g.132556937C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556937C>G , CM000667.2:g.132556937C>G	GRCh38
NC_000005.9:g.131892629C>G , CM000667.1:g.131892629C>G	GRCh37
NC_000005.8:g.131920528C>G	NCBI36
NG_021151.1:g.5014C>G
NG_021151.2:g.4961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2347C>G	ENSP00000492349.2:n.-168-2347C>G
ENST00000638504.1:n.207-2347C>G
ENST00000638568.2:c.-169+464C>G	ENSP00000491158.2:n.-169+464C>G
ENST00000639899.1:n.290-2347C>G
ENST00000640655.2:c.-168-2347C>G	ENSP00000491596.2:n.-168-2347C>G
ENST00000651541.1:c.-241C>G	ENSP00000498795.1:n.-241C>G
ENST00000416135.5:c.-169+464C>G	ENSP00000389515.1:n.-169+464C>G
NM_005732.3:c.-388C>G	NP_005723.2:n.-388C>G