Canonical Allele Identifier: CA1583241807

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594906A= , CM000667.2:g.132594906A=	GRCh38
NC_000005.9:g.131930598A= , CM000667.1:g.131930598A=	GRCh37
NC_000005.8:g.131958497A=	NCBI36
NG_021151.1:g.42983A=
NG_021151.2:g.42930A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1831A= MANE Select	ENSP00000368100.4:p.Ile611=
ENST00000638452.2:c.1534A=	ENSP00000492349.2:p.Ile512=
ENST00000638504.1:n.1480-198A=
ENST00000638568.2:c.1534A=	ENSP00000491158.2:p.Ile512=
ENST00000639899.1:n.2350A=
ENST00000640655.2:c.1534A=	ENSP00000491596.2:p.Ile512=
ENST00000651160.1:c.*16-198A=	ENSP00000498829.1:n.*16-198A=
ENST00000651658.1:n.2374A=
ENST00000651723.1:c.*1914A=	ENSP00000498237.1:n.*1914A=
ENST00000652016.1:c.*89-198A=	ENSP00000498267.1:n.*89-198A=
ENST00000652485.1:c.1864A=	ENSP00000498973.1:p.Ile622=
ENST00000378823.7:c.1831A=	ENSP00000368100.4:p.Ile611=
ENST00000423956.5:c.*17A=	ENSP00000390971.1:n.*17A=
ENST00000453394.5:c.1648A=	ENSP00000400049.1:p.Ile550=
ENST00000533482.5:c.*1457A=	ENSP00000431225.1:n.*1457A=
NM_005732.3:c.1831A=	NP_005723.2:p.Ile611=
NM_005732.4:c.1831A= MANE Select	NP_005723.2:p.Ile611=