Canonical Allele Identifier: CA1583245854
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132603933A= , CM000667.2:g.132603933A= GRCh38
NC_000005.9:g.131939625A= , CM000667.1:g.131939625A= GRCh37
NC_000005.8:g.131967524A= NCBI36
NG_021151.1:g.52010A=
NG_021151.2:g.51957A=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2411A= MANE Select ENSP00000368100.4:p.Asp804=
ENST00000638452.2:c.2114A= ENSP00000492349.2:p.Asp705=
ENST00000638504.1:n.2019A=
ENST00000638568.2:c.2114A= ENSP00000491158.2:p.Asp705=
ENST00000639899.1:n.2930A=
ENST00000640655.2:c.2114A= ENSP00000491596.2:p.Asp705=
ENST00000651160.1:c.*555A= ENSP00000498829.1:n.*555A=
ENST00000651658.1:n.2954A=
ENST00000651723.1:c.*2494A= ENSP00000498237.1:n.*2494A=
ENST00000652016.1:c.*628A= ENSP00000498267.1:n.*628A=
ENST00000652485.1:c.2444A= ENSP00000498973.1:p.Asp815=
ENST00000378823.7:c.2411A= ENSP00000368100.4:p.Asp804=
ENST00000423956.5:c.*597A= ENSP00000390971.1:n.*597A=
ENST00000533482.5:c.*2037A= ENSP00000431225.1:n.*2037A=
NM_005732.3:c.2411A= NP_005723.2:p.Asp804=
NM_005732.4:c.2411A= MANE Select NP_005723.2:p.Asp804=