Canonical Allele Identifier: CA1583229556
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609148T= , CM000667.2:g.132609148T= GRCh38
NC_000005.9:g.131944840T= , CM000667.1:g.131944840T= GRCh37
NC_000005.8:g.131972739T= NCBI36
NG_021151.1:g.57225T=
NG_021151.2:g.57172T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2861T= MANE Select ENSP00000368100.4:p.Ile954=
ENST00000638452.2:c.2564T= ENSP00000492349.2:p.Ile855=
ENST00000638504.1:n.2469T=
ENST00000638568.2:c.2564T= ENSP00000491158.2:p.Ile855=
ENST00000639899.1:n.3380T=
ENST00000640655.2:c.2564T= ENSP00000491596.2:p.Ile855=
ENST00000651160.1:c.*1005T= ENSP00000498829.1:n.*1005T=
ENST00000651723.1:c.*2944T= ENSP00000498237.1:n.*2944T=
ENST00000378823.7:c.2861T= ENSP00000368100.4:p.Ile954=
ENST00000423956.5:c.*1047T= ENSP00000390971.1:n.*1047T=
ENST00000533482.5:c.*2487T= ENSP00000431225.1:n.*2487T=
NM_005732.3:c.2861T= NP_005723.2:p.Ile954=
NM_005732.4:c.2861T= MANE Select NP_005723.2:p.Ile954=