Canonical Allele Identifier: CA1583229593
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609207A= , CM000667.2:g.132609207A= GRCh38
NC_000005.9:g.131944899A= , CM000667.1:g.131944899A= GRCh37
NC_000005.8:g.131972798A= NCBI36
NG_021151.1:g.57284A=
NG_021151.2:g.57231A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2920A= MANE Select ENSP00000368100.4:p.Lys974=
ENST00000638452.2:c.2623A= ENSP00000492349.2:p.Lys875=
ENST00000638504.1:n.2528A=
ENST00000638568.2:c.2623A= ENSP00000491158.2:p.Lys875=
ENST00000639899.1:n.3439A=
ENST00000640655.2:c.2623A= ENSP00000491596.2:p.Lys875=
ENST00000651160.1:c.*1064A= ENSP00000498829.1:n.*1064A=
ENST00000651723.1:c.*3003A= ENSP00000498237.1:n.*3003A=
ENST00000378823.7:c.2920A= ENSP00000368100.4:p.Lys974=
ENST00000423956.5:c.*1106A= ENSP00000390971.1:n.*1106A=
ENST00000533482.5:c.*2546A= ENSP00000431225.1:n.*2546A=
NM_005732.3:c.2920A= NP_005723.2:p.Lys974=
NM_005732.4:c.2920A= MANE Select NP_005723.2:p.Lys974=