Canonical Allele Identifier: CA1583241789

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594876C= , CM000667.2:g.132594876C=	GRCh38
NC_000005.9:g.131930568C= , CM000667.1:g.131930568C=	GRCh37
NC_000005.8:g.131958467C=	NCBI36
NG_021151.1:g.42953C=
NG_021151.2:g.42900C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1801C= MANE Select	ENSP00000368100.4:p.Leu601=
ENST00000638452.2:c.1504C=	ENSP00000492349.2:p.Leu502=
ENST00000638504.1:n.1480-228C=
ENST00000638568.2:c.1504C=	ENSP00000491158.2:p.Leu502=
ENST00000639899.1:n.2320C=
ENST00000640655.2:c.1504C=	ENSP00000491596.2:p.Leu502=
ENST00000651160.1:c.*16-228C=	ENSP00000498829.1:n.*16-228C=
ENST00000651658.1:n.2344C=
ENST00000651723.1:c.*1884C=	ENSP00000498237.1:n.*1884C=
ENST00000652016.1:c.*88+199C=	ENSP00000498267.1:n.*88+199C=
ENST00000652485.1:c.1834C=	ENSP00000498973.1:p.Leu612=
ENST00000378823.7:c.1801C=	ENSP00000368100.4:p.Leu601=
ENST00000423956.5:c.1643C=	ENSP00000390971.1:p.Thr548=
ENST00000453394.5:c.1618C=	ENSP00000400049.1:p.Leu540=
ENST00000533482.5:c.*1427C=	ENSP00000431225.1:n.*1427C=
NM_005732.3:c.1801C=	NP_005723.2:p.Leu601=
NM_005732.4:c.1801C= MANE Select	NP_005723.2:p.Leu601=