Canonical Allele Identifier: CA446364097
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 486239
ClinVar RCV Id: RCV000562448
dbSNP Id: rs1554099191

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604873A>G , CM000667.2:g.132604873A>G GRCh38
NC_000005.9:g.131940565A>G , CM000667.1:g.131940565A>G GRCh37
NC_000005.8:g.131968464A>G NCBI36
NG_021151.1:g.52950A>G
NG_021151.2:g.52897A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2592A>G MANE Select ENSP00000368100.4:p.Lys864=
ENST00000638452.2:c.2295A>G ENSP00000492349.2:p.Lys765=
ENST00000638504.1:n.2200A>G
ENST00000638568.2:c.2295A>G ENSP00000491158.2:p.Lys765=
ENST00000639899.1:n.3111A>G
ENST00000640655.2:c.2295A>G ENSP00000491596.2:p.Lys765=
ENST00000651160.1:c.*736A>G ENSP00000498829.1:n.*736A>G
ENST00000651723.1:c.*2675A>G ENSP00000498237.1:n.*2675A>G
ENST00000652016.1:c.*809A>G ENSP00000498267.1:n.*809A>G
ENST00000652485.1:c.2625A>G ENSP00000498973.1:p.Lys875=
ENST00000378823.7:c.2592A>G ENSP00000368100.4:p.Lys864=
ENST00000423956.5:c.*778A>G ENSP00000390971.1:n.*778A>G
ENST00000533482.5:c.*2218A>G ENSP00000431225.1:n.*2218A>G
NM_005732.3:c.2592A>G NP_005723.2:p.Lys864=
NM_005732.4:c.2592A>G MANE Select NP_005723.2:p.Lys864=