Canonical Allele Identifier: CA2675219047
Gene: RAD50 HGNC NCBI

Linked Data

gnomAD v4: 5-132618006-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618006T>C , CM000667.2:g.132618006T>C GRCh38
NC_000005.9:g.131953698T>C , CM000667.1:g.131953698T>C GRCh37
NC_000005.8:g.131981597T>C NCBI36
NG_021151.1:g.66083T>C
NG_021151.2:g.66030T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3165-64T>C MANE Select ENSP00000368100.4:n.3165-64T>C
ENST00000638452.2:c.2868-64T>C ENSP00000492349.2:n.2868-64T>C
ENST00000638504.1:n.2773-64T>C
ENST00000638568.2:c.2868-64T>C ENSP00000491158.2:n.2868-64T>C
ENST00000639899.1:n.3684-64T>C
ENST00000640655.2:c.2868-64T>C ENSP00000491596.2:n.2868-64T>C
ENST00000378823.7:c.3165-64T>C ENSP00000368100.4:n.3165-64T>C
ENST00000533482.5:c.*2791-64T>C ENSP00000431225.1:n.*2791-64T>C
NM_005732.3:c.3165-64T>C NP_005723.2:n.3165-64T>C
NM_005732.4:c.3165-64T>C MANE Select NP_005723.2:n.3165-64T>C
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