Canonical Allele Identifier: CA1583233487
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618070T= , CM000667.2:g.132618070T= GRCh38
NC_000005.9:g.131953762T= , CM000667.1:g.131953762T= GRCh37
NC_000005.8:g.131981661T= NCBI36
NG_021151.1:g.66147T=
NG_021151.2:g.66094T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3165T= MANE Select ENSP00000368100.4:p.Ser1055=
ENST00000638452.2:c.2868T= ENSP00000492349.2:p.Ser956=
ENST00000638504.1:n.2773T=
ENST00000638568.2:c.2868T= ENSP00000491158.2:p.Ser956=
ENST00000639899.1:n.3684T=
ENST00000640655.2:c.2868T= ENSP00000491596.2:p.Ser956=
ENST00000651249.1:c.1T=
ENST00000378823.7:c.3165T= ENSP00000368100.4:p.Ser1055=
ENST00000533482.5:c.*2791T= ENSP00000431225.1:n.*2791T=
NM_005732.3:c.3165T= NP_005723.2:p.Ser1055=
NM_005732.4:c.3165T= MANE Select NP_005723.2:p.Ser1055=