Canonical Allele Identifier: CA1583229356
Community Standard Title: NM_005732.4(RAD50):c.2821C= (p.Gln941=)
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132608717C= , CM000667.2:g.132608717C= GRCh38
NC_000005.9:g.131944409C= , CM000667.1:g.131944409C= GRCh37
NC_000005.8:g.131972308C= NCBI36
NG_021151.1:g.56794C=
NG_021151.2:g.56741C=

Transcript Alleles

HGVS Amino-acid Change
NM_005732.4:c.2821C= MANE Select NP_005723.2:p.Gln941=
ENST00000378823.8:c.2821C= MANE Select ENSP00000368100.4:p.Gln941=
NM_005732.3:c.2821C= NP_005723.2:p.Gln941=
ENST00000378823.7:c.2821C= ENSP00000368100.4:p.Gln941=
ENST00000423956.5:c.*1007C= ENSP00000390971.1:n.*1007C=
ENST00000533482.5:c.*2447C= ENSP00000431225.1:n.*2447C=
ENST00000638452.2:c.2524C= ENSP00000492349.2:p.Gln842=
ENST00000638504.1:n.2429C=
ENST00000638568.2:c.2524C= ENSP00000491158.2:p.Gln842=
ENST00000639899.1:n.3340C=
ENST00000640655.2:c.2524C= ENSP00000491596.2:p.Gln842=
ENST00000651160.1:c.*965C= ENSP00000498829.1:n.*965C=
ENST00000651723.1:c.*2904C= ENSP00000498237.1:n.*2904C=