Canonical Allele Identifier: CA360964287

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953792C>A (hg19) ; chr5:g.132618100C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618100C>A , CM000667.2:g.132618100C>A	GRCh38
NC_000005.9:g.131953792C>A , CM000667.1:g.131953792C>A	GRCh37
NC_000005.8:g.131981691C>A	NCBI36
NG_021151.1:g.66177C>A
NG_021151.2:g.66124C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3195C>A MANE Select	ENSP00000368100.4:p.Asp1065Glu
ENST00000638452.2:c.2898C>A	ENSP00000492349.2:p.Asp966Glu
ENST00000638504.1:n.2803C>A
ENST00000638568.2:c.2898C>A	ENSP00000491158.2:p.Asp966Glu
ENST00000639899.1:n.3714C>A
ENST00000640655.2:c.2898C>A	ENSP00000491596.2:p.Asp966Glu
ENST00000651249.1:c.31C>A
ENST00000378823.7:c.3195C>A	ENSP00000368100.4:p.Asp1065Glu
ENST00000533482.5:c.*2821C>A	ENSP00000431225.1:n.*2821C>A
NM_005732.3:c.3195C>A	NP_005723.2:p.Asp1065Glu
NM_005732.4:c.3195C>A MANE Select	NP_005723.2:p.Asp1065Glu