Canonical Allele Identifier: CA189053
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 184469
dbSNP Id: rs373428259

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132588872C>T , CM000667.2:g.132588872C>T GRCh38
NC_000005.9:g.131924564C>T , CM000667.1:g.131924564C>T GRCh37
NC_000005.8:g.131952463C>T NCBI36
NG_021151.1:g.36949C>T
NG_021151.2:g.36896C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1237C>T MANE Select ENSP00000368100.4:p.Gln413Ter
ENST00000638452.2:c.940C>T ENSP00000492349.2:p.Gln314Ter
ENST00000638504.1:n.923C>T
ENST00000638568.2:c.940C>T ENSP00000491158.2:p.Gln314Ter
ENST00000639899.1:n.1756C>T
ENST00000640655.2:c.940C>T ENSP00000491596.2:p.Gln314Ter
ENST00000651160.1:c.1237C>T ENSP00000498829.1:p.Gln413Ter
ENST00000651541.1:c.940C>T ENSP00000498795.1:p.Gln314Ter
ENST00000651658.1:n.1664C>T
ENST00000651723.1:c.*1320C>T ENSP00000498237.1:n.*1320C>T
ENST00000652016.1:c.1237C>T ENSP00000498267.1:p.Gln413Ter
ENST00000652485.1:c.1237C>T ENSP00000498973.1:p.Gln413Ter
ENST00000378823.7:c.1237C>T ENSP00000368100.4:p.Gln413Ter
ENST00000423956.5:c.1237C>T ENSP00000390971.1:p.Gln413Ter
ENST00000453394.5:c.1237C>T ENSP00000400049.1:p.Gln413Ter
ENST00000533482.5:c.*863C>T ENSP00000431225.1:n.*863C>T
NM_005732.3:c.1237C>T NP_005723.2:p.Gln413Ter
NM_005732.4:c.1237C>T MANE Select NP_005723.2:p.Gln413Ter