Canonical Allele Identifier: CA1583238059

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588764C= , CM000667.2:g.132588764C=	GRCh38
NC_000005.9:g.131924456C= , CM000667.1:g.131924456C=	GRCh37
NC_000005.8:g.131952355C=	NCBI36
NG_021151.1:g.36841C=
NG_021151.2:g.36788C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1129C= MANE Select	ENSP00000368100.4:p.Gln377=
ENST00000638452.2:c.832C=	ENSP00000492349.2:p.Gln278=
ENST00000638504.1:n.815C=
ENST00000638568.2:c.832C=	ENSP00000491158.2:p.Gln278=
ENST00000639899.1:n.1648C=
ENST00000640655.2:c.832C=	ENSP00000491596.2:p.Gln278=
ENST00000651160.1:c.1129C=	ENSP00000498829.1:p.Gln377=
ENST00000651541.1:c.832C=	ENSP00000498795.1:p.Gln278=
ENST00000651658.1:n.1556C=
ENST00000651723.1:c.*1212C=	ENSP00000498237.1:n.*1212C=
ENST00000652016.1:c.1129C=	ENSP00000498267.1:p.Gln377=
ENST00000652485.1:c.1129C=	ENSP00000498973.1:p.Gln377=
ENST00000378823.7:c.1129C=	ENSP00000368100.4:p.Gln377=
ENST00000423956.5:c.1129C=	ENSP00000390971.1:p.Gln377=
ENST00000453394.5:c.1129C=	ENSP00000400049.1:p.Gln377=
ENST00000487596.1:n.695C=
ENST00000533482.5:c.*755C=	ENSP00000431225.1:n.*755C=
NM_005732.3:c.1129C=	NP_005723.2:p.Gln377=
NM_005732.4:c.1129C= MANE Select	NP_005723.2:p.Gln377=