Canonical Allele Identifier: CA230716
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 126999
dbSNP Id: rs104895046

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132588749C>T , CM000667.2:g.132588749C>T GRCh38
NC_000005.9:g.131924441C>T , CM000667.1:g.131924441C>T GRCh37
NC_000005.8:g.131952340C>T NCBI36
NG_021151.1:g.36826C>T
NG_021151.2:g.36773C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.1114C>T MANE Select ENSP00000368100.4:p.Gln372Ter
ENST00000638452.2:c.817C>T ENSP00000492349.2:p.Gln273Ter
ENST00000638504.1:n.800C>T
ENST00000638568.2:c.817C>T ENSP00000491158.2:p.Gln273Ter
ENST00000639899.1:n.1633C>T
ENST00000640655.2:c.817C>T ENSP00000491596.2:p.Gln273Ter
ENST00000651160.1:c.1114C>T ENSP00000498829.1:p.Gln372Ter
ENST00000651541.1:c.817C>T ENSP00000498795.1:p.Gln273Ter
ENST00000651658.1:n.1541C>T
ENST00000651723.1:c.*1197C>T ENSP00000498237.1:p.=
ENST00000652016.1:c.1114C>T ENSP00000498267.1:p.Gln372Ter
ENST00000652485.1:c.1114C>T ENSP00000498973.1:p.Gln372Ter
ENST00000378823.7:c.1114C>T ENSP00000368100.4:p.Gln372Ter
ENST00000423956.5:c.1114C>T ENSP00000390971.1:p.Gln372Ter
ENST00000453394.5:c.1114C>T ENSP00000400049.1:p.Gln372Ter
ENST00000487596.1:n.680C>T
ENST00000533482.5:c.*740C>T ENSP00000431225.1:p.=
NM_005732.3:c.1114C>T NP_005723.2:p.Gln372Ter
NM_005732.4:c.1114C>T MANE Select NP_005723.2:p.Gln372Ter