Canonical Allele Identifier: CA360964897
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618236A>T , CM000667.2:g.132618236A>T GRCh38
NC_000005.9:g.131953928A>T , CM000667.1:g.131953928A>T GRCh37
NC_000005.8:g.131981827A>T NCBI36
NG_021151.1:g.66313A>T
NG_021151.2:g.66260A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3331A>T MANE Select ENSP00000368100.4:p.Met1111Leu
ENST00000638452.2:c.3034A>T ENSP00000492349.2:p.Met1012Leu
ENST00000638504.1:n.2939A>T
ENST00000638568.2:c.3034A>T ENSP00000491158.2:p.Met1012Leu
ENST00000639899.1:n.3850A>T
ENST00000640655.2:c.3034A>T ENSP00000491596.2:p.Met1012Leu
ENST00000651249.1:c.167A>T
ENST00000378823.7:c.3331A>T ENSP00000368100.4:p.Met1111Leu
ENST00000533482.5:c.*2957A>T ENSP00000431225.1:n.*2957A>T
NM_005732.3:c.3331A>T NP_005723.2:p.Met1111Leu
NM_005732.4:c.3331A>T MANE Select NP_005723.2:p.Met1111Leu