Canonical Allele Identifier: CA1583241808

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594907T= , CM000667.2:g.132594907T=	GRCh38
NC_000005.9:g.131930599T= , CM000667.1:g.131930599T=	GRCh37
NC_000005.8:g.131958498T=	NCBI36
NG_021151.1:g.42984T=
NG_021151.2:g.42931T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1832T= MANE Select	ENSP00000368100.4:p.Ile611=
ENST00000638452.2:c.1535T=	ENSP00000492349.2:p.Ile512=
ENST00000638504.1:n.1480-197T=
ENST00000638568.2:c.1535T=	ENSP00000491158.2:p.Ile512=
ENST00000639899.1:n.2351T=
ENST00000640655.2:c.1535T=	ENSP00000491596.2:p.Ile512=
ENST00000651160.1:c.*16-197T=	ENSP00000498829.1:n.*16-197T=
ENST00000651658.1:n.2375T=
ENST00000651723.1:c.*1915T=	ENSP00000498237.1:n.*1915T=
ENST00000652016.1:c.*89-197T=	ENSP00000498267.1:n.*89-197T=
ENST00000652485.1:c.1865T=	ENSP00000498973.1:p.Ile622=
ENST00000378823.7:c.1832T=	ENSP00000368100.4:p.Ile611=
ENST00000423956.5:c.*18T=	ENSP00000390971.1:n.*18T=
ENST00000453394.5:c.1649T=	ENSP00000400049.1:p.Ile550=
ENST00000533482.5:c.*1458T=	ENSP00000431225.1:n.*1458T=
NM_005732.3:c.1832T=	NP_005723.2:p.Ile611=
NM_005732.4:c.1832T= MANE Select	NP_005723.2:p.Ile611=