Canonical Allele Identifier: CA360960698
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609341A>G , CM000667.2:g.132609341A>G GRCh38
NC_000005.9:g.131945033A>G , CM000667.1:g.131945033A>G GRCh37
NC_000005.8:g.131972932A>G NCBI36
NG_021151.1:g.57418A>G
NG_021151.2:g.57365A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2981A>G MANE Select ENSP00000368100.4:p.Lys994Arg
ENST00000638452.2:c.2684A>G ENSP00000492349.2:p.Lys895Arg
ENST00000638504.1:n.2589A>G
ENST00000638568.2:c.2684A>G ENSP00000491158.2:p.Lys895Arg
ENST00000639899.1:n.3500A>G
ENST00000640655.2:c.2684A>G ENSP00000491596.2:p.Lys895Arg
ENST00000651160.1:c.*1125A>G ENSP00000498829.1:n.*1125A>G
ENST00000651723.1:c.*3064A>G ENSP00000498237.1:n.*3064A>G
ENST00000378823.7:c.2981A>G ENSP00000368100.4:p.Lys994Arg
ENST00000533482.5:c.*2607A>G ENSP00000431225.1:n.*2607A>G
NM_005732.3:c.2981A>G NP_005723.2:p.Lys994Arg
NM_005732.4:c.2981A>G MANE Select NP_005723.2:p.Lys994Arg