Canonical Allele Identifier: CA3404893
Gene: RAD50 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 232569
ClinVar RCV Id: RCV000216511
dbSNP Id: rs748086984

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132557455T>A , CM000667.2:g.132557455T>A GRCh38
NC_000005.9:g.131893147T>A , CM000667.1:g.131893147T>A GRCh37
NC_000005.8:g.131921046T>A NCBI36
NG_021151.1:g.5532T>A

Transcript Alleles

HGVS Amino-acid change
NM_005732.3:c.129+2T>A VV NP_005723.2:p.=
ENST00000378823.7:c.129+2T>A ENSP00000368100.4:p.=
ENST00000416135.5:c.-169+982T>A ENSP00000389515.1:p.=
ENST00000423956.5:c.129+2T>A ENSP00000390971.1:p.=
ENST00000453394.5:c.129+2T>A ENSP00000400049.1:p.=
ENST00000533482.5:c.129+2T>A ENSP00000431225.1:p.=