Canonical Allele Identifier: CA1583246305
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604884A= , CM000667.2:g.132604884A= GRCh38
NC_000005.9:g.131940576A= , CM000667.1:g.131940576A= GRCh37
NC_000005.8:g.131968475A= NCBI36
NG_021151.1:g.52961A=
NG_021151.2:g.52908A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2603A= MANE Select ENSP00000368100.4:p.Asn868=
ENST00000638452.2:c.2306A= ENSP00000492349.2:p.Asn769=
ENST00000638504.1:n.2211A=
ENST00000638568.2:c.2306A= ENSP00000491158.2:p.Asn769=
ENST00000639899.1:n.3122A=
ENST00000640655.2:c.2306A= ENSP00000491596.2:p.Asn769=
ENST00000651160.1:c.*747A= ENSP00000498829.1:n.*747A=
ENST00000651723.1:c.*2686A= ENSP00000498237.1:n.*2686A=
ENST00000652016.1:c.*820A= ENSP00000498267.1:n.*820A=
ENST00000652485.1:c.2636A= ENSP00000498973.1:p.Asn879=
ENST00000378823.7:c.2603A= ENSP00000368100.4:p.Asn868=
ENST00000423956.5:c.*789A= ENSP00000390971.1:n.*789A=
ENST00000533482.5:c.*2229A= ENSP00000431225.1:n.*2229A=
NM_005732.3:c.2603A= NP_005723.2:p.Asn868=
NM_005732.4:c.2603A= MANE Select NP_005723.2:p.Asn868=