Canonical Allele Identifier: CA1583246316
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604909G= , CM000667.2:g.132604909G= GRCh38
NC_000005.9:g.131940601G= , CM000667.1:g.131940601G= GRCh37
NC_000005.8:g.131968500G= NCBI36
NG_021151.1:g.52986G=
NG_021151.2:g.52933G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2628G= MANE Select ENSP00000368100.4:p.Gln876=
ENST00000638452.2:c.2331G= ENSP00000492349.2:p.Gln777=
ENST00000638504.1:n.2236G=
ENST00000638568.2:c.2331G= ENSP00000491158.2:p.Gln777=
ENST00000639899.1:n.3147G=
ENST00000640655.2:c.2331G= ENSP00000491596.2:p.Gln777=
ENST00000651160.1:c.*772G= ENSP00000498829.1:n.*772G=
ENST00000651723.1:c.*2711G= ENSP00000498237.1:n.*2711G=
ENST00000652016.1:c.*845G= ENSP00000498267.1:n.*845G=
ENST00000652485.1:c.2661G= ENSP00000498973.1:p.Gln887=
ENST00000378823.7:c.2628G= ENSP00000368100.4:p.Gln876=
ENST00000423956.5:c.*814G= ENSP00000390971.1:n.*814G=
ENST00000533482.5:c.*2254G= ENSP00000431225.1:n.*2254G=
NM_005732.3:c.2628G= NP_005723.2:p.Gln876=
NM_005732.4:c.2628G= MANE Select NP_005723.2:p.Gln876=