Canonical Allele Identifier: CA166733
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 141896
ClinVar RCV Id: RCV000130597 RCV000763128
dbSNP Id: rs587782090
MyVariant Identifiers: chr5:g.131923634G>T (hg19) chr5:g.132587942G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132587942G>T , CM000667.2:g.132587942G>T GRCh38
NC_000005.9:g.131923634G>T , CM000667.1:g.131923634G>T GRCh37
NC_000005.8:g.131951533G>T NCBI36
NG_021151.1:g.36019G>T
NG_021151.2:g.35966G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.904G>T MANE Select ENSP00000368100.4:p.Glu302Ter
ENST00000638452.2:c.607G>T ENSP00000492349.2:p.Glu203Ter
ENST00000638504.1:n.590G>T
ENST00000638568.2:c.607G>T ENSP00000491158.2:p.Glu203Ter
ENST00000639899.1:n.1423G>T
ENST00000640655.2:c.607G>T ENSP00000491596.2:p.Glu203Ter
ENST00000651160.1:c.904G>T ENSP00000498829.1:p.Glu302Ter
ENST00000651541.1:c.607G>T ENSP00000498795.1:p.Glu203Ter
ENST00000651658.1:n.1331G>T
ENST00000651723.1:c.*987G>T ENSP00000498237.1:n.*987G>T
ENST00000652016.1:c.904G>T ENSP00000498267.1:p.Glu302Ter
ENST00000652485.1:c.904G>T ENSP00000498973.1:p.Glu302Ter
ENST00000378823.7:c.904G>T ENSP00000368100.4:p.Glu302Ter
ENST00000423956.5:c.904G>T ENSP00000390971.1:p.Glu302Ter
ENST00000453394.5:c.904G>T ENSP00000400049.1:p.Glu302Ter
ENST00000487596.1:n.470G>T
ENST00000533482.5:c.*530G>T ENSP00000431225.1:n.*530G>T
NM_005732.3:c.904G>T NP_005723.2:p.Glu302Ter
NM_005732.4:c.904G>T MANE Select NP_005723.2:p.Glu302Ter
Search 100 bp 5'
Search 100 bp 3'