Canonical Allele Identifier: CA1583229679
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609344A= , CM000667.2:g.132609344A= GRCh38
NC_000005.9:g.131945036A= , CM000667.1:g.131945036A= GRCh37
NC_000005.8:g.131972935A= NCBI36
NG_021151.1:g.57421A=
NG_021151.2:g.57368A=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2984A= MANE Select ENSP00000368100.4:p.Glu995=
ENST00000638452.2:c.2687A= ENSP00000492349.2:p.Glu896=
ENST00000638504.1:n.2592A=
ENST00000638568.2:c.2687A= ENSP00000491158.2:p.Glu896=
ENST00000639899.1:n.3503A=
ENST00000640655.2:c.2687A= ENSP00000491596.2:p.Glu896=
ENST00000651723.1:c.*3067A= ENSP00000498237.1:n.*3067A=
ENST00000378823.7:c.2984A= ENSP00000368100.4:p.Glu995=
ENST00000533482.5:c.*2610A= ENSP00000431225.1:n.*2610A=
NM_005732.3:c.2984A= NP_005723.2:p.Glu995=
NM_005732.4:c.2984A= MANE Select NP_005723.2:p.Glu995=