Canonical Allele Identifier: CA1583241892
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132595060T= , CM000667.2:g.132595060T= GRCh38
NC_000005.9:g.131930752T= , CM000667.1:g.131930752T= GRCh37
NC_000005.8:g.131958651T= NCBI36
NG_021151.1:g.43137T=
NG_021151.2:g.43084T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1969+16T= MANE Select ENSP00000368100.4:n.1969+16T=
ENST00000638452.2:c.1672+16T= ENSP00000492349.2:n.1672+16T=
ENST00000638504.1:n.1480-44T=
ENST00000638568.2:c.1672+16T= ENSP00000491158.2:n.1672+16T=
ENST00000639899.1:n.2488+16T=
ENST00000640655.2:c.1672+16T= ENSP00000491596.2:n.1672+16T=
ENST00000651160.1:c.*16-44T= ENSP00000498829.1:n.*16-44T=
ENST00000651658.1:n.2512+16T=
ENST00000651723.1:c.*2052+16T= ENSP00000498237.1:n.*2052+16T=
ENST00000652016.1:c.*89-44T= ENSP00000498267.1:n.*89-44T=
ENST00000652485.1:c.2002+16T= ENSP00000498973.1:n.2002+16T=
ENST00000378823.7:c.1969+16T= ENSP00000368100.4:n.1969+16T=
ENST00000423956.5:c.*155+16T= ENSP00000390971.1:n.*155+16T=
ENST00000453394.5:c.1786+16T= ENSP00000400049.1:n.1786+16T=
ENST00000533482.5:c.*1595+16T= ENSP00000431225.1:n.*1595+16T=
NM_005732.3:c.1969+16T= NP_005723.2:n.1969+16T=
NM_005732.4:c.1969+16T= MANE Select NP_005723.2:n.1969+16T=