Canonical Allele Identifier: CA650290193
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604780T>C , CM000667.2:g.132604780T>C GRCh38
NC_000005.9:g.131940472T>C , CM000667.1:g.131940472T>C GRCh37
NC_000005.8:g.131968371T>C NCBI36
NG_021151.1:g.52857T>C
NG_021151.2:g.52804T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2525-26T>C MANE Select ENSP00000368100.4:n.2525-26T>C
ENST00000638452.2:c.2228-26T>C ENSP00000492349.2:n.2228-26T>C
ENST00000638504.1:n.2133-26T>C
ENST00000638568.2:c.2228-26T>C ENSP00000491158.2:n.2228-26T>C
ENST00000639899.1:n.3044-26T>C
ENST00000640655.2:c.2228-26T>C ENSP00000491596.2:n.2228-26T>C
ENST00000651160.1:c.*669-26T>C ENSP00000498829.1:n.*669-26T>C
ENST00000651723.1:c.*2608-26T>C ENSP00000498237.1:n.*2608-26T>C
ENST00000652016.1:c.*742-26T>C ENSP00000498267.1:n.*742-26T>C
ENST00000652485.1:c.2558-26T>C ENSP00000498973.1:n.2558-26T>C
ENST00000378823.7:c.2525-26T>C ENSP00000368100.4:n.2525-26T>C
ENST00000423956.5:c.*711-26T>C ENSP00000390971.1:n.*711-26T>C
ENST00000533482.5:c.*2151-26T>C ENSP00000431225.1:n.*2151-26T>C
NM_005732.3:c.2525-26T>C NP_005723.2:n.2525-26T>C
NM_005732.4:c.2525-26T>C MANE Select NP_005723.2:n.2525-26T>C