Canonical Allele Identifier: CA1583229685
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609361A= , CM000667.2:g.132609361A= GRCh38
NC_000005.9:g.131945053A= , CM000667.1:g.131945053A= GRCh37
NC_000005.8:g.131972952A= NCBI36
NG_021151.1:g.57438A=
NG_021151.2:g.57385A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3001A= MANE Select ENSP00000368100.4:p.Met1001=
ENST00000638452.2:c.2704A= ENSP00000492349.2:p.Met902=
ENST00000638504.1:n.2609A=
ENST00000638568.2:c.2704A= ENSP00000491158.2:p.Met902=
ENST00000639899.1:n.3520A=
ENST00000640655.2:c.2704A= ENSP00000491596.2:p.Met902=
ENST00000651723.1:c.*3084A= ENSP00000498237.1:n.*3084A=
ENST00000378823.7:c.3001A= ENSP00000368100.4:p.Met1001=
ENST00000533482.5:c.*2627A= ENSP00000431225.1:n.*2627A=
NM_005732.3:c.3001A= NP_005723.2:p.Met1001=
NM_005732.4:c.3001A= MANE Select NP_005723.2:p.Met1001=