Canonical Allele Identifier: CA1583229572
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609173G= , CM000667.2:g.132609173G= GRCh38
NC_000005.9:g.131944865G= , CM000667.1:g.131944865G= GRCh37
NC_000005.8:g.131972764G= NCBI36
NG_021151.1:g.57250G=
NG_021151.2:g.57197G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2886G= MANE Select ENSP00000368100.4:p.Glu962=
ENST00000638452.2:c.2589G= ENSP00000492349.2:p.Glu863=
ENST00000638504.1:n.2494G=
ENST00000638568.2:c.2589G= ENSP00000491158.2:p.Glu863=
ENST00000639899.1:n.3405G=
ENST00000640655.2:c.2589G= ENSP00000491596.2:p.Glu863=
ENST00000651160.1:c.*1030G= ENSP00000498829.1:n.*1030G=
ENST00000651723.1:c.*2969G= ENSP00000498237.1:n.*2969G=
ENST00000378823.7:c.2886G= ENSP00000368100.4:p.Glu962=
ENST00000423956.5:c.*1072G= ENSP00000390971.1:n.*1072G=
ENST00000533482.5:c.*2512G= ENSP00000431225.1:n.*2512G=
NM_005732.3:c.2886G= NP_005723.2:p.Glu962=
NM_005732.4:c.2886G= MANE Select NP_005723.2:p.Glu962=