Canonical Allele Identifier: CA360948338
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 937770
dbSNP Id: rs876659631

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132595005A>G , CM000667.2:g.132595005A>G GRCh38
NC_000005.9:g.131930697A>G , CM000667.1:g.131930697A>G GRCh37
NC_000005.8:g.131958596A>G NCBI36
NG_021151.1:g.43082A>G
NG_021151.2:g.43029A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1930A>G MANE Select ENSP00000368100.4:p.Arg644Gly
ENST00000638452.2:c.1633A>G ENSP00000492349.2:p.Arg545Gly
ENST00000638504.1:n.1480-99A>G
ENST00000638568.2:c.1633A>G ENSP00000491158.2:p.Arg545Gly
ENST00000639899.1:n.2449A>G
ENST00000640655.2:c.1633A>G ENSP00000491596.2:p.Arg545Gly
ENST00000651160.1:c.*16-99A>G ENSP00000498829.1:n.*16-99A>G
ENST00000651658.1:n.2473A>G
ENST00000651723.1:c.*2013A>G ENSP00000498237.1:n.*2013A>G
ENST00000652016.1:c.*89-99A>G ENSP00000498267.1:n.*89-99A>G
ENST00000652485.1:c.1963A>G ENSP00000498973.1:p.Arg655Gly
ENST00000378823.7:c.1930A>G ENSP00000368100.4:p.Arg644Gly
ENST00000423956.5:c.*116A>G ENSP00000390971.1:n.*116A>G
ENST00000453394.5:c.1747A>G ENSP00000400049.1:p.Arg583Gly
ENST00000533482.5:c.*1556A>G ENSP00000431225.1:n.*1556A>G
NM_005732.3:c.1930A>G NP_005723.2:p.Arg644Gly
NM_005732.4:c.1930A>G MANE Select NP_005723.2:p.Arg644Gly