Canonical Allele Identifier: CA10578595

Gene: RAD50

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618134C>A , CM000667.2:g.132618134C>A	GRCh38
NC_000005.9:g.131953826C>A , CM000667.1:g.131953826C>A	GRCh37
NC_000005.8:g.131981725C>A	NCBI36
NG_021151.1:g.66211C>A
NG_021151.2:g.66158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3229C>A MANE Select	ENSP00000368100.4:p.Arg1077=
ENST00000638452.2:c.2932C>A	ENSP00000492349.2:p.Arg978=
ENST00000638504.1:n.2837C>A
ENST00000638568.2:c.2932C>A	ENSP00000491158.2:p.Arg978=
ENST00000639899.1:n.3748C>A
ENST00000640655.2:c.2932C>A	ENSP00000491596.2:p.Arg978=
ENST00000651249.1:c.65C>A
ENST00000378823.7:c.3229C>A	ENSP00000368100.4:p.Arg1077=
ENST00000533482.5:c.*2855C>A	ENSP00000431225.1:n.*2855C>A
NM_005732.3:c.3229C>A	NP_005723.2:p.Arg1077=
NM_005732.4:c.3229C>A MANE Select	NP_005723.2:p.Arg1077=