Canonical Allele Identifier: CA164772
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 141208
ClinVar RCV Id: RCV000129612
dbSNP Id: rs587781576
MyVariant Identifiers: chr5:g.131915645C>T (hg19) chr5:g.132579953C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132579953C>T , CM000667.2:g.132579953C>T GRCh38
NC_000005.9:g.131915645C>T , CM000667.1:g.131915645C>T GRCh37
NC_000005.8:g.131943544C>T NCBI36
NG_021151.1:g.28030C>T
NG_021151.2:g.27977C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.643C>T MANE Select ENSP00000368100.4:p.Gln215Ter
ENST00000638452.2:c.346C>T ENSP00000492349.2:p.Gln116Ter
ENST00000638504.1:n.442+4025C>T
ENST00000638568.2:c.346C>T ENSP00000491158.2:p.Gln116Ter
ENST00000639899.1:n.1162C>T
ENST00000640655.2:c.346C>T ENSP00000491596.2:p.Gln116Ter
ENST00000651160.1:c.643C>T ENSP00000498829.1:p.Gln215Ter
ENST00000651541.1:c.346C>T ENSP00000498795.1:p.Gln116Ter
ENST00000651658.1:n.1070C>T
ENST00000651723.1:c.*726C>T ENSP00000498237.1:n.*726C>T
ENST00000652016.1:c.643C>T ENSP00000498267.1:p.Gln215Ter
ENST00000652485.1:c.643C>T ENSP00000498973.1:p.Gln215Ter
ENST00000378823.7:c.643C>T ENSP00000368100.4:p.Gln215Ter
ENST00000423956.5:c.643C>T ENSP00000390971.1:p.Gln215Ter
ENST00000453394.5:c.643C>T ENSP00000400049.1:p.Gln215Ter
ENST00000487596.1:n.209C>T
ENST00000533482.5:c.*269C>T ENSP00000431225.1:n.*269C>T
NM_005732.3:c.643C>T NP_005723.2:p.Gln215Ter
NM_005732.4:c.643C>T MANE Select NP_005723.2:p.Gln215Ter
Search 100 bp 5'
Search 100 bp 3'