Canonical Allele Identifier: CA1583233615
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618105T= , CM000667.2:g.132618105T= GRCh38
NC_000005.9:g.131953797T= , CM000667.1:g.131953797T= GRCh37
NC_000005.8:g.131981696T= NCBI36
NG_021151.1:g.66182T=
NG_021151.2:g.66129T=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3200T= MANE Select ENSP00000368100.4:p.Ile1067=
ENST00000638452.2:c.2903T= ENSP00000492349.2:p.Ile968=
ENST00000638504.1:n.2808T=
ENST00000638568.2:c.2903T= ENSP00000491158.2:p.Ile968=
ENST00000639899.1:n.3719T=
ENST00000640655.2:c.2903T= ENSP00000491596.2:p.Ile968=
ENST00000651249.1:c.36T=
ENST00000378823.7:c.3200T= ENSP00000368100.4:p.Ile1067=
ENST00000533482.5:c.*2826T= ENSP00000431225.1:n.*2826T=
NM_005732.3:c.3200T= NP_005723.2:p.Ile1067=
NM_005732.4:c.3200T= MANE Select NP_005723.2:p.Ile1067=