Canonical Allele Identifier: CA2675215474
Gene: RAD50 HGNC NCBI

Linked Data

gnomAD v4: 5-132556949-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132556949G>C , CM000667.2:g.132556949G>C GRCh38
NC_000005.9:g.131892641G>C , CM000667.1:g.131892641G>C GRCh37
NC_000005.8:g.131920540G>C NCBI36
NG_021151.1:g.5026G>C
NG_021151.2:g.4973G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000638452.2:c.-168-2335G>C ENSP00000492349.2:n.-168-2335G>C
ENST00000638504.1:n.207-2335G>C
ENST00000638568.2:c.-169+476G>C ENSP00000491158.2:n.-169+476G>C
ENST00000639899.1:n.290-2335G>C
ENST00000640655.2:c.-168-2335G>C ENSP00000491596.2:n.-168-2335G>C
ENST00000651541.1:c.-229G>C ENSP00000498795.1:n.-229G>C
ENST00000378823.7:c.-376G>C ENSP00000368100.4:n.-376G>C
ENST00000416135.5:c.-169+476G>C ENSP00000389515.1:n.-169+476G>C
ENST00000533482.5:c.-376G>C ENSP00000431225.1:n.-376G>C
NM_005732.3:c.-376G>C NP_005723.2:n.-376G>C
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