Canonical Allele Identifier: CA1583229542
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609125T= , CM000667.2:g.132609125T= GRCh38
NC_000005.9:g.131944817T= , CM000667.1:g.131944817T= GRCh37
NC_000005.8:g.131972716T= NCBI36
NG_021151.1:g.57202T=
NG_021151.2:g.57149T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2838T= MANE Select ENSP00000368100.4:p.Asp946=
ENST00000638452.2:c.2541T= ENSP00000492349.2:p.Asp847=
ENST00000638504.1:n.2446T=
ENST00000638568.2:c.2541T= ENSP00000491158.2:p.Asp847=
ENST00000639899.1:n.3357T=
ENST00000640655.2:c.2541T= ENSP00000491596.2:p.Asp847=
ENST00000651160.1:c.*982T= ENSP00000498829.1:n.*982T=
ENST00000651723.1:c.*2921T= ENSP00000498237.1:n.*2921T=
ENST00000378823.7:c.2838T= ENSP00000368100.4:p.Asp946=
ENST00000423956.5:c.*1024T= ENSP00000390971.1:n.*1024T=
ENST00000533482.5:c.*2464T= ENSP00000431225.1:n.*2464T=
NM_005732.3:c.2838T= NP_005723.2:p.Asp946=
NM_005732.4:c.2838T= MANE Select NP_005723.2:p.Asp946=