Canonical Allele Identifier: CA1583241791

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594878A= , CM000667.2:g.132594878A=	GRCh38
NC_000005.9:g.131930570A= , CM000667.1:g.131930570A=	GRCh37
NC_000005.8:g.131958469A=	NCBI36
NG_021151.1:g.42955A=
NG_021151.2:g.42902A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1803A= MANE Select	ENSP00000368100.4:p.Leu601=
ENST00000638452.2:c.1506A=	ENSP00000492349.2:p.Leu502=
ENST00000638504.1:n.1480-226A=
ENST00000638568.2:c.1506A=	ENSP00000491158.2:p.Leu502=
ENST00000639899.1:n.2322A=
ENST00000640655.2:c.1506A=	ENSP00000491596.2:p.Leu502=
ENST00000651160.1:c.*16-226A=	ENSP00000498829.1:n.*16-226A=
ENST00000651658.1:n.2346A=
ENST00000651723.1:c.*1886A=	ENSP00000498237.1:n.*1886A=
ENST00000652016.1:c.*88+201A=	ENSP00000498267.1:n.*88+201A=
ENST00000652485.1:c.1836A=	ENSP00000498973.1:p.Leu612=
ENST00000378823.7:c.1803A=	ENSP00000368100.4:p.Leu601=
ENST00000423956.5:c.1645A=	ENSP00000390971.1:p.Ser549=
ENST00000453394.5:c.1620A=	ENSP00000400049.1:p.Leu540=
ENST00000533482.5:c.*1429A=	ENSP00000431225.1:n.*1429A=
NM_005732.3:c.1803A=	NP_005723.2:p.Leu601=
NM_005732.4:c.1803A= MANE Select	NP_005723.2:p.Leu601=