Canonical Allele Identifier: CA1583233417
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs1751206199
gnomAD v4: 5-132618002-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618002T>A , CM000667.2:g.132618002T>A GRCh38
NC_000005.9:g.131953694T>A , CM000667.1:g.131953694T>A GRCh37
NC_000005.8:g.131981593T>A NCBI36
NG_021151.1:g.66079T>A
NG_021151.2:g.66026T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3165-68T>A MANE Select ENSP00000368100.4:n.3165-68T>A
ENST00000638452.2:c.2868-68T>A ENSP00000492349.2:n.2868-68T>A
ENST00000638504.1:n.2773-68T>A
ENST00000638568.2:c.2868-68T>A ENSP00000491158.2:n.2868-68T>A
ENST00000639899.1:n.3684-68T>A
ENST00000640655.2:c.2868-68T>A ENSP00000491596.2:n.2868-68T>A
ENST00000378823.7:c.3165-68T>A ENSP00000368100.4:n.3165-68T>A
ENST00000533482.5:c.*2791-68T>A ENSP00000431225.1:n.*2791-68T>A
NM_005732.3:c.3165-68T>A NP_005723.2:n.3165-68T>A
NM_005732.4:c.3165-68T>A MANE Select NP_005723.2:n.3165-68T>A
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