Canonical Allele Identifier: CA1583220648
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs2244012

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132565533A>T , CM000667.2:g.132565533A>T GRCh38
NC_000005.9:g.131901225A>T , CM000667.1:g.131901225A>T GRCh37
NC_000005.8:g.131929124A>T NCBI36
NG_021151.1:g.13610A>T
NG_021151.2:g.13557A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.213+6166A>T MANE Select ENSP00000368100.4:n.213+6166A>T
ENST00000638452.2:c.-85+6166A>T ENSP00000492349.2:n.-85+6166A>T
ENST00000638504.1:n.290+6166A>T
ENST00000638568.2:c.-85+6166A>T ENSP00000491158.2:n.-85+6166A>T
ENST00000639899.1:n.373+6166A>T
ENST00000640655.2:c.-85+6166A>T ENSP00000491596.2:n.-85+6166A>T
ENST00000651160.1:c.213+6166A>T ENSP00000498829.1:n.213+6166A>T
ENST00000651541.1:c.-85+6166A>T ENSP00000498795.1:n.-85+6166A>T
ENST00000651658.1:n.281+6166A>T
ENST00000651723.1:c.*361+6166A>T ENSP00000498237.1:n.*361+6166A>T
ENST00000652016.1:c.213+6166A>T ENSP00000498267.1:n.213+6166A>T
ENST00000652485.1:c.213+6166A>T ENSP00000498973.1:n.213+6166A>T
ENST00000378823.7:c.213+6166A>T ENSP00000368100.4:n.213+6166A>T
ENST00000416135.5:c.-85+6166A>T ENSP00000389515.1:n.-85+6166A>T
ENST00000423956.5:c.213+6166A>T ENSP00000390971.1:n.213+6166A>T
ENST00000453394.5:c.213+6166A>T ENSP00000400049.1:n.213+6166A>T
ENST00000533482.5:c.213+6166A>T ENSP00000431225.1:n.213+6166A>T
NM_005732.3:c.213+6166A>T NP_005723.2:n.213+6166A>T
NM_005732.4:c.213+6166A>T MANE Select NP_005723.2:n.213+6166A>T