Canonical Allele Identifier: CA1583246313
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604900G= , CM000667.2:g.132604900G= GRCh38
NC_000005.9:g.131940592G= , CM000667.1:g.131940592G= GRCh37
NC_000005.8:g.131968491G= NCBI36
NG_021151.1:g.52977G=
NG_021151.2:g.52924G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2619G= MANE Select ENSP00000368100.4:p.Glu873=
ENST00000638452.2:c.2322G= ENSP00000492349.2:p.Glu774=
ENST00000638504.1:n.2227G=
ENST00000638568.2:c.2322G= ENSP00000491158.2:p.Glu774=
ENST00000639899.1:n.3138G=
ENST00000640655.2:c.2322G= ENSP00000491596.2:p.Glu774=
ENST00000651160.1:c.*763G= ENSP00000498829.1:n.*763G=
ENST00000651723.1:c.*2702G= ENSP00000498237.1:n.*2702G=
ENST00000652016.1:c.*836G= ENSP00000498267.1:n.*836G=
ENST00000652485.1:c.2652G= ENSP00000498973.1:p.Glu884=
ENST00000378823.7:c.2619G= ENSP00000368100.4:p.Glu873=
ENST00000423956.5:c.*805G= ENSP00000390971.1:n.*805G=
ENST00000533482.5:c.*2245G= ENSP00000431225.1:n.*2245G=
NM_005732.3:c.2619G= NP_005723.2:p.Glu873=
NM_005732.4:c.2619G= MANE Select NP_005723.2:p.Glu873=