Canonical Allele Identifier: CA915206600
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 1541380
ClinVar RCV Id: RCV002172475
dbSNP Id: rs1561639963

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132589615T>G , CM000667.2:g.132589615T>G GRCh38
NC_000005.9:g.131925307T>G , CM000667.1:g.131925307T>G GRCh37
NC_000005.8:g.131953206T>G NCBI36
NG_021151.1:g.37692T>G
NG_021151.2:g.37639T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1246-16T>G MANE Select ENSP00000368100.4:n.1246-16T>G
ENST00000638452.2:c.949-16T>G ENSP00000492349.2:n.949-16T>G
ENST00000638504.1:n.932-16T>G
ENST00000638568.2:c.949-16T>G ENSP00000491158.2:n.949-16T>G
ENST00000639899.1:n.1765-16T>G
ENST00000640655.2:c.949-16T>G ENSP00000491596.2:n.949-16T>G
ENST00000651160.1:c.1246-16T>G ENSP00000498829.1:n.1246-16T>G
ENST00000651541.1:c.949-16T>G ENSP00000498795.1:n.949-16T>G
ENST00000651658.1:n.1673-16T>G
ENST00000651723.1:c.*1329-16T>G ENSP00000498237.1:n.*1329-16T>G
ENST00000652016.1:c.1246-16T>G ENSP00000498267.1:n.1246-16T>G
ENST00000652485.1:c.1246-16T>G ENSP00000498973.1:n.1246-16T>G
ENST00000378823.7:c.1246-16T>G ENSP00000368100.4:n.1246-16T>G
ENST00000423956.5:c.1246-16T>G ENSP00000390971.1:n.1246-16T>G
ENST00000453394.5:c.1246-16T>G ENSP00000400049.1:n.1246-16T>G
ENST00000533482.5:c.*872-16T>G ENSP00000431225.1:n.*872-16T>G
NM_005732.3:c.1246-16T>G NP_005723.2:n.1246-16T>G
NM_005732.4:c.1246-16T>G MANE Select NP_005723.2:n.1246-16T>G