Canonical Allele Identifier: CA1583241865

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595008C= , CM000667.2:g.132595008C=	GRCh38
NC_000005.9:g.131930700C= , CM000667.1:g.131930700C=	GRCh37
NC_000005.8:g.131958599C=	NCBI36
NG_021151.1:g.43085C=
NG_021151.2:g.43032C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1933C= MANE Select	ENSP00000368100.4:p.Leu645=
ENST00000638452.2:c.1636C=	ENSP00000492349.2:p.Leu546=
ENST00000638504.1:n.1480-96C=
ENST00000638568.2:c.1636C=	ENSP00000491158.2:p.Leu546=
ENST00000639899.1:n.2452C=
ENST00000640655.2:c.1636C=	ENSP00000491596.2:p.Leu546=
ENST00000651160.1:c.*16-96C=	ENSP00000498829.1:n.*16-96C=
ENST00000651658.1:n.2476C=
ENST00000651723.1:c.*2016C=	ENSP00000498237.1:n.*2016C=
ENST00000652016.1:c.*89-96C=	ENSP00000498267.1:n.*89-96C=
ENST00000652485.1:c.1966C=	ENSP00000498973.1:p.Leu656=
ENST00000378823.7:c.1933C=	ENSP00000368100.4:p.Leu645=
ENST00000423956.5:c.*119C=	ENSP00000390971.1:n.*119C=
ENST00000453394.5:c.1750C=	ENSP00000400049.1:p.Leu584=
ENST00000533482.5:c.*1559C=	ENSP00000431225.1:n.*1559C=
NM_005732.3:c.1933C=	NP_005723.2:p.Leu645=
NM_005732.4:c.1933C= MANE Select	NP_005723.2:p.Leu645=