Canonical Allele Identifier: CA562772505

Gene: RAD50

Linked Data

• dbSNP Id: rs1321826960
• gnomAD v2: 5-131892603-C-T
• gnomAD v3: 5-132556911-C-T
• gnomAD v4: 5-132556911-C-T
• MyVariant Identifiers: chr5:g.131892603C>T (hg19) ; chr5:g.132556911C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556911C>T , CM000667.2:g.132556911C>T	GRCh38
NC_000005.9:g.131892603C>T , CM000667.1:g.131892603C>T	GRCh37
NC_000005.8:g.131920502C>T	NCBI36
NG_021151.1:g.4988C>T
NG_021151.2:g.4935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2373C>T	ENSP00000492349.2:n.-168-2373C>T
ENST00000638504.1:n.207-2373C>T
ENST00000638568.2:c.-169+438C>T	ENSP00000491158.2:n.-169+438C>T
ENST00000639899.1:n.290-2373C>T
ENST00000640655.2:c.-168-2373C>T	ENSP00000491596.2:n.-168-2373C>T
ENST00000416135.5:c.-169+438C>T	ENSP00000389515.1:n.-169+438C>T