Canonical Allele Identifier: CA446356577
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131977969G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642277G>A , CM000667.2:g.132642277G>A GRCh38
NC_000005.9:g.131977969G>A , CM000667.1:g.131977969G>A GRCh37
NC_000005.8:g.132005868G>A NCBI36
NG_021151.1:g.90354G>A
NG_021151.2:g.90301G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3852G>A (RAD50) MANE Select ENSP00000368100.4:p.Glu1284=
ENST00000638452.2:c.3555G>A ENSP00000492349.2:p.Glu1185=
ENST00000638504.1:n.3460G>A
ENST00000638568.2:c.3555G>A ENSP00000491158.2:p.Glu1185=
ENST00000639899.1:n.4371G>A
ENST00000640655.2:c.3555G>A ENSP00000491596.2:p.Glu1185=
ENST00000651249.1:c.688G>A (RAD50)
ENST00000378823.7:c.3852G>A (RAD50) ENSP00000368100.4:p.Glu1284=
ENST00000455677.1:c.388-728G>A (RAD50)
ENST00000533482.5:c.*3478G>A (RAD50) ENSP00000431225.1:n.*3478G>A
NM_005732.3:c.3852G>A (RAD50) NP_005723.2:p.Glu1284=
NR_132125.1:n.110C>T (TH2LCRR)
NR_132126.1:n.175-4012C>T (TH2LCRR)
NM_005732.4:c.3852G>A (RAD50) MANE Select NP_005723.2:p.Glu1284=