Canonical Allele Identifier: CA333261
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 142441
dbSNP Id: rs112241748

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604951G>A , CM000667.2:g.132604951G>A GRCh38
NC_000005.9:g.131940643G>A , CM000667.1:g.131940643G>A GRCh37
NC_000005.8:g.131968542G>A NCBI36
NG_021151.1:g.53028G>A
NG_021151.2:g.52975G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2670G>A MANE Select ENSP00000368100.4:p.Gln890=
ENST00000638452.2:c.2373G>A ENSP00000492349.2:p.Gln791=
ENST00000638504.1:n.2278G>A
ENST00000638568.2:c.2373G>A ENSP00000491158.2:p.Gln791=
ENST00000639899.1:n.3189G>A
ENST00000640655.2:c.2373G>A ENSP00000491596.2:p.Gln791=
ENST00000651160.1:c.*814G>A ENSP00000498829.1:n.*814G>A
ENST00000651723.1:c.*2753G>A ENSP00000498237.1:n.*2753G>A
ENST00000652016.1:c.*887G>A ENSP00000498267.1:n.*887G>A
ENST00000378823.7:c.2670G>A ENSP00000368100.4:p.Gln890=
ENST00000423956.5:c.*856G>A ENSP00000390971.1:n.*856G>A
ENST00000533482.5:c.*2296G>A ENSP00000431225.1:n.*2296G>A
NM_005732.3:c.2670G>A NP_005723.2:p.Gln890=
NM_005732.4:c.2670G>A MANE Select NP_005723.2:p.Gln890=