Canonical Allele Identifier: CA360964209

Gene: RAD50

Linked Data

• ClinVar Variation Id: 3224971
• ClinVar RCV Id: RCV004521661
• MyVariant Identifiers: chr5:g.131953772A>G (hg19) ; chr5:g.132618080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618080A>G , CM000667.2:g.132618080A>G	GRCh38
NC_000005.9:g.131953772A>G , CM000667.1:g.131953772A>G	GRCh37
NC_000005.8:g.131981671A>G	NCBI36
NG_021151.1:g.66157A>G
NG_021151.2:g.66104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3175A>G MANE Select	ENSP00000368100.4:p.Lys1059Glu
ENST00000638452.2:c.2878A>G	ENSP00000492349.2:p.Lys960Glu
ENST00000638504.1:n.2783A>G
ENST00000638568.2:c.2878A>G	ENSP00000491158.2:p.Lys960Glu
ENST00000639899.1:n.3694A>G
ENST00000640655.2:c.2878A>G	ENSP00000491596.2:p.Lys960Glu
ENST00000651249.1:c.11A>G
ENST00000378823.7:c.3175A>G	ENSP00000368100.4:p.Lys1059Glu
ENST00000533482.5:c.*2801A>G	ENSP00000431225.1:n.*2801A>G
NM_005732.3:c.3175A>G	NP_005723.2:p.Lys1059Glu
NM_005732.4:c.3175A>G MANE Select	NP_005723.2:p.Lys1059Glu