Canonical Allele Identifier: CA1583246324
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604928C= , CM000667.2:g.132604928C= GRCh38
NC_000005.9:g.131940620C= , CM000667.1:g.131940620C= GRCh37
NC_000005.8:g.131968519C= NCBI36
NG_021151.1:g.53005C=
NG_021151.2:g.52952C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2647C= MANE Select ENSP00000368100.4:p.Arg883=
ENST00000638452.2:c.2350C= ENSP00000492349.2:p.Arg784=
ENST00000638504.1:n.2255C=
ENST00000638568.2:c.2350C= ENSP00000491158.2:p.Arg784=
ENST00000639899.1:n.3166C=
ENST00000640655.2:c.2350C= ENSP00000491596.2:p.Arg784=
ENST00000651160.1:c.*791C= ENSP00000498829.1:n.*791C=
ENST00000651723.1:c.*2730C= ENSP00000498237.1:n.*2730C=
ENST00000652016.1:c.*864C= ENSP00000498267.1:n.*864C=
ENST00000652485.1:c.2680C= ENSP00000498973.1:p.Arg894=
ENST00000378823.7:c.2647C= ENSP00000368100.4:p.Arg883=
ENST00000423956.5:c.*833C= ENSP00000390971.1:n.*833C=
ENST00000533482.5:c.*2273C= ENSP00000431225.1:n.*2273C=
NM_005732.3:c.2647C= NP_005723.2:p.Arg883=
NM_005732.4:c.2647C= MANE Select NP_005723.2:p.Arg883=