Canonical Allele Identifier: CA1583229681
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609352A= , CM000667.2:g.132609352A= GRCh38
NC_000005.9:g.131945044A= , CM000667.1:g.131945044A= GRCh37
NC_000005.8:g.131972943A= NCBI36
NG_021151.1:g.57429A=
NG_021151.2:g.57376A=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2992A= MANE Select ENSP00000368100.4:p.Asn998=
ENST00000638452.2:c.2695A= ENSP00000492349.2:p.Asn899=
ENST00000638504.1:n.2600A=
ENST00000638568.2:c.2695A= ENSP00000491158.2:p.Asn899=
ENST00000639899.1:n.3511A=
ENST00000640655.2:c.2695A= ENSP00000491596.2:p.Asn899=
ENST00000651723.1:c.*3075A= ENSP00000498237.1:n.*3075A=
ENST00000378823.7:c.2992A= ENSP00000368100.4:p.Asn998=
ENST00000533482.5:c.*2618A= ENSP00000431225.1:n.*2618A=
NM_005732.3:c.2992A= NP_005723.2:p.Asn998=
NM_005732.4:c.2992A= MANE Select NP_005723.2:p.Asn998=