Canonical Allele Identifier: CA1583233838
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618209G= , CM000667.2:g.132618209G= GRCh38
NC_000005.9:g.131953901G= , CM000667.1:g.131953901G= GRCh37
NC_000005.8:g.131981800G= NCBI36
NG_021151.1:g.66286G=
NG_021151.2:g.66233G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3304G= MANE Select ENSP00000368100.4:p.Glu1102=
ENST00000638452.2:c.3007G= ENSP00000492349.2:p.Glu1003=
ENST00000638504.1:n.2912G=
ENST00000638568.2:c.3007G= ENSP00000491158.2:p.Glu1003=
ENST00000639899.1:n.3823G=
ENST00000640655.2:c.3007G= ENSP00000491596.2:p.Glu1003=
ENST00000651249.1:c.140G=
ENST00000378823.7:c.3304G= ENSP00000368100.4:p.Glu1102=
ENST00000533482.5:c.*2930G= ENSP00000431225.1:n.*2930G=
NM_005732.3:c.3304G= NP_005723.2:p.Glu1102=
NM_005732.4:c.3304G= MANE Select NP_005723.2:p.Glu1102=