Canonical Allele Identifier: CA3405112
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs556301488

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132588722C>A , CM000667.2:g.132588722C>A GRCh38
NC_000005.9:g.131924414C>A , CM000667.1:g.131924414C>A GRCh37
NC_000005.8:g.131952313C>A NCBI36
NG_021151.1:g.36799C>A
NG_021151.2:g.36746C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1087C>A MANE Select ENSP00000368100.4:p.His363Asn
ENST00000638452.2:c.790C>A ENSP00000492349.2:p.His264Asn
ENST00000638504.1:n.773C>A
ENST00000638568.2:c.790C>A ENSP00000491158.2:p.His264Asn
ENST00000639899.1:n.1606C>A
ENST00000640655.2:c.790C>A ENSP00000491596.2:p.His264Asn
ENST00000651160.1:c.1087C>A ENSP00000498829.1:p.His363Asn
ENST00000651541.1:c.790C>A ENSP00000498795.1:p.His264Asn
ENST00000651658.1:n.1514C>A
ENST00000651723.1:c.*1170C>A ENSP00000498237.1:n.*1170C>A
ENST00000652016.1:c.1087C>A ENSP00000498267.1:p.His363Asn
ENST00000652485.1:c.1087C>A ENSP00000498973.1:p.His363Asn
ENST00000378823.7:c.1087C>A ENSP00000368100.4:p.His363Asn
ENST00000423956.5:c.1087C>A ENSP00000390971.1:p.His363Asn
ENST00000453394.5:c.1087C>A ENSP00000400049.1:p.His363Asn
ENST00000487596.1:n.653C>A
ENST00000533482.5:c.*713C>A ENSP00000431225.1:n.*713C>A
NM_005732.3:c.1087C>A NP_005723.2:p.His363Asn
NM_005732.4:c.1087C>A MANE Select NP_005723.2:p.His363Asn