Canonical Allele Identifier: CA1583245850

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603923G= , CM000667.2:g.132603923G=	GRCh38
NC_000005.9:g.131939615G= , CM000667.1:g.131939615G=	GRCh37
NC_000005.8:g.131967514G=	NCBI36
NG_021151.1:g.52000G=
NG_021151.2:g.51947G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2401G= MANE Select	ENSP00000368100.4:p.Glu801=
ENST00000638452.2:c.2104G=	ENSP00000492349.2:p.Glu702=
ENST00000638504.1:n.2009G=
ENST00000638568.2:c.2104G=	ENSP00000491158.2:p.Glu702=
ENST00000639899.1:n.2920G=
ENST00000640655.2:c.2104G=	ENSP00000491596.2:p.Glu702=
ENST00000651160.1:c.*545G=	ENSP00000498829.1:n.*545G=
ENST00000651658.1:n.2944G=
ENST00000651723.1:c.*2484G=	ENSP00000498237.1:n.*2484G=
ENST00000652016.1:c.*618G=	ENSP00000498267.1:n.*618G=
ENST00000652485.1:c.2434G=	ENSP00000498973.1:p.Glu812=
ENST00000378823.7:c.2401G=	ENSP00000368100.4:p.Glu801=
ENST00000423956.5:c.*587G=	ENSP00000390971.1:n.*587G=
ENST00000533482.5:c.*2027G=	ENSP00000431225.1:n.*2027G=
NM_005732.3:c.2401G=	NP_005723.2:p.Glu801=
NM_005732.4:c.2401G= MANE Select	NP_005723.2:p.Glu801=