Canonical Allele Identifier: CA360960817
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs1186188551

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609359A>C , CM000667.2:g.132609359A>C GRCh38
NC_000005.9:g.131945051A>C , CM000667.1:g.131945051A>C GRCh37
NC_000005.8:g.131972950A>C NCBI36
NG_021151.1:g.57436A>C
NG_021151.2:g.57383A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2999A>C MANE Select ENSP00000368100.4:p.Asp1000Ala
ENST00000638452.2:c.2702A>C ENSP00000492349.2:p.Asp901Ala
ENST00000638504.1:n.2607A>C
ENST00000638568.2:c.2702A>C ENSP00000491158.2:p.Asp901Ala
ENST00000639899.1:n.3518A>C
ENST00000640655.2:c.2702A>C ENSP00000491596.2:p.Asp901Ala
ENST00000651723.1:c.*3082A>C ENSP00000498237.1:n.*3082A>C
ENST00000378823.7:c.2999A>C ENSP00000368100.4:p.Asp1000Ala
ENST00000533482.5:c.*2625A>C ENSP00000431225.1:n.*2625A>C
NM_005732.3:c.2999A>C NP_005723.2:p.Asp1000Ala
NM_005732.4:c.2999A>C MANE Select NP_005723.2:p.Asp1000Ala