Canonical Allele Identifier: CA562772508
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs1319925803
gnomAD v2: 5-131892625-G-A
gnomAD v3: 5-132556933-G-A
gnomAD v4: 5-132556933-G-A
MyVariant Identifiers: chr5:g.131892625G>A (hg19) chr5:g.132556933G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132556933G>A , CM000667.2:g.132556933G>A GRCh38
NC_000005.9:g.131892625G>A , CM000667.1:g.131892625G>A GRCh37
NC_000005.8:g.131920524G>A NCBI36
NG_021151.1:g.5010G>A
NG_021151.2:g.4957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000638452.2:c.-168-2351G>A ENSP00000492349.2:n.-168-2351G>A
ENST00000638504.1:n.207-2351G>A
ENST00000638568.2:c.-169+460G>A ENSP00000491158.2:n.-169+460G>A
ENST00000639899.1:n.290-2351G>A
ENST00000640655.2:c.-168-2351G>A ENSP00000491596.2:n.-168-2351G>A
ENST00000651541.1:c.-245G>A ENSP00000498795.1:n.-245G>A
ENST00000416135.5:c.-169+460G>A ENSP00000389515.1:n.-169+460G>A
NM_005732.3:c.-392G>A NP_005723.2:n.-392G>A
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