Canonical Allele Identifier: CA1583233515
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618082G= , CM000667.2:g.132618082G= GRCh38
NC_000005.9:g.131953774G= , CM000667.1:g.131953774G= GRCh37
NC_000005.8:g.131981673G= NCBI36
NG_021151.1:g.66159G=
NG_021151.2:g.66106G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3177G= MANE Select ENSP00000368100.4:p.Lys1059=
ENST00000638452.2:c.2880G= ENSP00000492349.2:p.Lys960=
ENST00000638504.1:n.2785G=
ENST00000638568.2:c.2880G= ENSP00000491158.2:p.Lys960=
ENST00000639899.1:n.3696G=
ENST00000640655.2:c.2880G= ENSP00000491596.2:p.Lys960=
ENST00000651249.1:c.13G=
ENST00000378823.7:c.3177G= ENSP00000368100.4:p.Lys1059=
ENST00000533482.5:c.*2803G= ENSP00000431225.1:n.*2803G=
NM_005732.3:c.3177G= NP_005723.2:p.Lys1059=
NM_005732.4:c.3177G= MANE Select NP_005723.2:p.Lys1059=