Canonical Allele Identifier: CA1583246295
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604871A= , CM000667.2:g.132604871A= GRCh38
NC_000005.9:g.131940563A= , CM000667.1:g.131940563A= GRCh37
NC_000005.8:g.131968462A= NCBI36
NG_021151.1:g.52948A=
NG_021151.2:g.52895A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2590A= MANE Select ENSP00000368100.4:p.Lys864=
ENST00000638452.2:c.2293A= ENSP00000492349.2:p.Lys765=
ENST00000638504.1:n.2198A=
ENST00000638568.2:c.2293A= ENSP00000491158.2:p.Lys765=
ENST00000639899.1:n.3109A=
ENST00000640655.2:c.2293A= ENSP00000491596.2:p.Lys765=
ENST00000651160.1:c.*734A= ENSP00000498829.1:n.*734A=
ENST00000651723.1:c.*2673A= ENSP00000498237.1:n.*2673A=
ENST00000652016.1:c.*807A= ENSP00000498267.1:n.*807A=
ENST00000652485.1:c.2623A= ENSP00000498973.1:p.Lys875=
ENST00000378823.7:c.2590A= ENSP00000368100.4:p.Lys864=
ENST00000423956.5:c.*776A= ENSP00000390971.1:n.*776A=
ENST00000533482.5:c.*2216A= ENSP00000431225.1:n.*2216A=
NM_005732.3:c.2590A= NP_005723.2:p.Lys864=
NM_005732.4:c.2590A= MANE Select NP_005723.2:p.Lys864=