Canonical Allele Identifier: CA1583246343

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604960A= , CM000667.2:g.132604960A=	GRCh38
NC_000005.9:g.131940652A= , CM000667.1:g.131940652A=	GRCh37
NC_000005.8:g.131968551A=	NCBI36
NG_021151.1:g.53037A=
NG_021151.2:g.52984A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2679A= MANE Select	ENSP00000368100.4:p.Glu893=
ENST00000638452.2:c.2382A=	ENSP00000492349.2:p.Glu794=
ENST00000638504.1:n.2287A=
ENST00000638568.2:c.2382A=	ENSP00000491158.2:p.Glu794=
ENST00000639899.1:n.3198A=
ENST00000640655.2:c.2382A=	ENSP00000491596.2:p.Glu794=
ENST00000651160.1:c.*823A=	ENSP00000498829.1:n.*823A=
ENST00000651723.1:c.*2762A=	ENSP00000498237.1:n.*2762A=
ENST00000652016.1:c.*896A=	ENSP00000498267.1:n.*896A=
ENST00000378823.7:c.2679A=	ENSP00000368100.4:p.Glu893=
ENST00000423956.5:c.*865A=	ENSP00000390971.1:n.*865A=
ENST00000533482.5:c.*2305A=	ENSP00000431225.1:n.*2305A=
NM_005732.3:c.2679A=	NP_005723.2:p.Glu893=
NM_005732.4:c.2679A= MANE Select	NP_005723.2:p.Glu893=