Canonical Allele Identifier: CA1583240623

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591962A= , CM000667.2:g.132591962A=	GRCh38
NC_000005.9:g.131927654A= , CM000667.1:g.131927654A=	GRCh37
NC_000005.8:g.131955553A=	NCBI36
NG_021151.1:g.40039A=
NG_021151.2:g.39986A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1721A= MANE Select	ENSP00000368100.4:p.Lys574=
ENST00000638452.2:c.1424A=	ENSP00000492349.2:p.Lys475=
ENST00000638504.1:n.1407A=
ENST00000638568.2:c.1424A=	ENSP00000491158.2:p.Lys475=
ENST00000639899.1:n.2240A=
ENST00000640655.2:c.1424A=	ENSP00000491596.2:p.Lys475=
ENST00000651160.1:c.1721A=	ENSP00000498829.1:p.Lys574=
ENST00000651541.1:c.1424A=	ENSP00000498795.1:p.Lys475=
ENST00000651658.1:n.2148A=
ENST00000651723.1:c.*1804A=	ENSP00000498237.1:n.*1804A=
ENST00000652016.1:c.1721A=	ENSP00000498267.1:p.Lys574=
ENST00000652485.1:c.1754A=	ENSP00000498973.1:p.Lys585=
ENST00000378823.7:c.1721A=	ENSP00000368100.4:p.Lys574=
ENST00000423956.5:c.1635+556A=	ENSP00000390971.1:n.1635+556A=
ENST00000434288.1:c.216A=
ENST00000453394.5:c.1538A=	ENSP00000400049.1:p.Lys513=
ENST00000533482.5:c.*1347A=	ENSP00000431225.1:n.*1347A=
NM_005732.3:c.1721A=	NP_005723.2:p.Lys574=
NM_005732.4:c.1721A= MANE Select	NP_005723.2:p.Lys574=