Canonical Allele Identifier: CA2578402797
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609029A>T , CM000667.2:g.132609029A>T GRCh38
NC_000005.9:g.131944721A>T , CM000667.1:g.131944721A>T GRCh37
NC_000005.8:g.131972620A>T NCBI36
NG_021151.1:g.57106A>T
NG_021151.2:g.57053A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2830-88A>T MANE Select ENSP00000368100.4:n.2830-88A>T
ENST00000638452.2:c.2533-88A>T ENSP00000492349.2:n.2533-88A>T
ENST00000638504.1:n.2438-88A>T
ENST00000638568.2:c.2533-88A>T ENSP00000491158.2:n.2533-88A>T
ENST00000639899.1:n.3349-88A>T
ENST00000640655.2:c.2533-88A>T ENSP00000491596.2:n.2533-88A>T
ENST00000651160.1:c.*974-88A>T ENSP00000498829.1:n.*974-88A>T
ENST00000651723.1:c.*2913-88A>T ENSP00000498237.1:n.*2913-88A>T
ENST00000378823.7:c.2830-88A>T ENSP00000368100.4:n.2830-88A>T
ENST00000423956.5:c.*1016-88A>T ENSP00000390971.1:n.*1016-88A>T
ENST00000533482.5:c.*2456-88A>T ENSP00000431225.1:n.*2456-88A>T
NM_005732.3:c.2830-88A>T NP_005723.2:n.2830-88A>T
NM_005732.4:c.2830-88A>T MANE Select NP_005723.2:n.2830-88A>T