Canonical Allele Identifier: CA360956547
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604889C>G , CM000667.2:g.132604889C>G GRCh38
NC_000005.9:g.131940581C>G , CM000667.1:g.131940581C>G GRCh37
NC_000005.8:g.131968480C>G NCBI36
NG_021151.1:g.52966C>G
NG_021151.2:g.52913C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2608C>G MANE Select ENSP00000368100.4:p.Leu870Val
ENST00000638452.2:c.2311C>G ENSP00000492349.2:p.Leu771Val
ENST00000638504.1:n.2216C>G
ENST00000638568.2:c.2311C>G ENSP00000491158.2:p.Leu771Val
ENST00000639899.1:n.3127C>G
ENST00000640655.2:c.2311C>G ENSP00000491596.2:p.Leu771Val
ENST00000651160.1:c.*752C>G ENSP00000498829.1:n.*752C>G
ENST00000651723.1:c.*2691C>G ENSP00000498237.1:n.*2691C>G
ENST00000652016.1:c.*825C>G ENSP00000498267.1:n.*825C>G
ENST00000652485.1:c.2641C>G ENSP00000498973.1:p.Leu881Val
ENST00000378823.7:c.2608C>G ENSP00000368100.4:p.Leu870Val
ENST00000423956.5:c.*794C>G ENSP00000390971.1:n.*794C>G
ENST00000533482.5:c.*2234C>G ENSP00000431225.1:n.*2234C>G
NM_005732.3:c.2608C>G NP_005723.2:p.Leu870Val
NM_005732.4:c.2608C>G MANE Select NP_005723.2:p.Leu870Val