Canonical Allele Identifier: CA804005283
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs1180799127
gnomAD v4: 5-132556917-A-C
MyVariant Identifiers: chr5:g.131892609A>C (hg19) chr5:g.132556917A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132556917A>C , CM000667.2:g.132556917A>C GRCh38
NC_000005.9:g.131892609A>C , CM000667.1:g.131892609A>C GRCh37
NC_000005.8:g.131920508A>C NCBI36
NG_021151.1:g.4994A>C
NG_021151.2:g.4941A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000638452.2:c.-168-2367A>C ENSP00000492349.2:n.-168-2367A>C
ENST00000638504.1:n.207-2367A>C
ENST00000638568.2:c.-169+444A>C ENSP00000491158.2:n.-169+444A>C
ENST00000639899.1:n.290-2367A>C
ENST00000640655.2:c.-168-2367A>C ENSP00000491596.2:n.-168-2367A>C
ENST00000416135.5:c.-169+444A>C ENSP00000389515.1:n.-169+444A>C
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