Canonical Allele Identifier: CA446364920

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1650628
• ClinVar RCV Id: RCV002149111
• dbSNP Id: rs780640956
• MyVariant Identifiers: chr5:g.131953903A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618211A>G , CM000667.2:g.132618211A>G	GRCh38
NC_000005.9:g.131953903A>G , CM000667.1:g.131953903A>G	GRCh37
NC_000005.8:g.131981802A>G	NCBI36
NG_021151.1:g.66288A>G
NG_021151.2:g.66235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3306A>G MANE Select	ENSP00000368100.4:p.Glu1102=
ENST00000638452.2:c.3009A>G	ENSP00000492349.2:p.Glu1003=
ENST00000638504.1:n.2914A>G
ENST00000638568.2:c.3009A>G	ENSP00000491158.2:p.Glu1003=
ENST00000639899.1:n.3825A>G
ENST00000640655.2:c.3009A>G	ENSP00000491596.2:p.Glu1003=
ENST00000651249.1:c.142A>G
ENST00000378823.7:c.3306A>G	ENSP00000368100.4:p.Glu1102=
ENST00000533482.5:c.*2932A>G	ENSP00000431225.1:n.*2932A>G
NM_005732.3:c.3306A>G	NP_005723.2:p.Glu1102=
NM_005732.4:c.3306A>G MANE Select	NP_005723.2:p.Glu1102=