Canonical Allele Identifier: CA360956407
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604857A>G , CM000667.2:g.132604857A>G GRCh38
NC_000005.9:g.131940549A>G , CM000667.1:g.131940549A>G GRCh37
NC_000005.8:g.131968448A>G NCBI36
NG_021151.1:g.52934A>G
NG_021151.2:g.52881A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2576A>G MANE Select ENSP00000368100.4:p.Gln859Arg
ENST00000638452.2:c.2279A>G ENSP00000492349.2:p.Gln760Arg
ENST00000638504.1:n.2184A>G
ENST00000638568.2:c.2279A>G ENSP00000491158.2:p.Gln760Arg
ENST00000639899.1:n.3095A>G
ENST00000640655.2:c.2279A>G ENSP00000491596.2:p.Gln760Arg
ENST00000651160.1:c.*720A>G ENSP00000498829.1:n.*720A>G
ENST00000651723.1:c.*2659A>G ENSP00000498237.1:n.*2659A>G
ENST00000652016.1:c.*793A>G ENSP00000498267.1:n.*793A>G
ENST00000652485.1:c.2609A>G ENSP00000498973.1:p.Gln870Arg
ENST00000378823.7:c.2576A>G ENSP00000368100.4:p.Gln859Arg
ENST00000423956.5:c.*762A>G ENSP00000390971.1:n.*762A>G
ENST00000533482.5:c.*2202A>G ENSP00000431225.1:n.*2202A>G
NM_005732.3:c.2576A>G NP_005723.2:p.Gln859Arg
NM_005732.4:c.2576A>G MANE Select NP_005723.2:p.Gln859Arg