Canonical Allele Identifier: CA360956937
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604979T>A , CM000667.2:g.132604979T>A GRCh38
NC_000005.9:g.131940671T>A , CM000667.1:g.131940671T>A GRCh37
NC_000005.8:g.131968570T>A NCBI36
NG_021151.1:g.53056T>A
NG_021151.2:g.53003T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2698T>A MANE Select ENSP00000368100.4:p.Ser900Thr
ENST00000638452.2:c.2401T>A ENSP00000492349.2:p.Ser801Thr
ENST00000638504.1:n.2306T>A
ENST00000638568.2:c.2401T>A ENSP00000491158.2:p.Ser801Thr
ENST00000639899.1:n.3217T>A
ENST00000640655.2:c.2401T>A ENSP00000491596.2:p.Ser801Thr
ENST00000651160.1:c.*842T>A ENSP00000498829.1:n.*842T>A
ENST00000651723.1:c.*2781T>A ENSP00000498237.1:n.*2781T>A
ENST00000652016.1:c.*915T>A ENSP00000498267.1:n.*915T>A
ENST00000378823.7:c.2698T>A ENSP00000368100.4:p.Ser900Thr
ENST00000423956.5:c.*884T>A ENSP00000390971.1:n.*884T>A
ENST00000533482.5:c.*2324T>A ENSP00000431225.1:n.*2324T>A
NM_005732.3:c.2698T>A NP_005723.2:p.Ser900Thr
NM_005732.4:c.2698T>A MANE Select NP_005723.2:p.Ser900Thr