Canonical Allele Identifier: CA1583242154

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595650G= , CM000667.2:g.132595650G=	GRCh38
NC_000005.9:g.131931342G= , CM000667.1:g.131931342G=	GRCh37
NC_000005.8:g.131959241G=	NCBI36
NG_021151.1:g.43727G=
NG_021151.2:g.43674G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2047G= MANE Select	ENSP00000368100.4:p.Val683=
ENST00000638452.2:c.1750G=	ENSP00000492349.2:p.Val584=
ENST00000638504.1:n.1655G=
ENST00000638568.2:c.1750G=	ENSP00000491158.2:p.Val584=
ENST00000639899.1:n.2566G=
ENST00000640655.2:c.1750G=	ENSP00000491596.2:p.Val584=
ENST00000651160.1:c.*191G=	ENSP00000498829.1:n.*191G=
ENST00000651658.1:n.2590G=
ENST00000651723.1:c.*2130G=	ENSP00000498237.1:n.*2130G=
ENST00000652016.1:c.*264G=	ENSP00000498267.1:n.*264G=
ENST00000652485.1:c.2080G=	ENSP00000498973.1:p.Val694=
ENST00000378823.7:c.2047G=	ENSP00000368100.4:p.Val683=
ENST00000423956.5:c.*233G=	ENSP00000390971.1:n.*233G=
ENST00000453394.5:c.1864G=	ENSP00000400049.1:p.Val622=
ENST00000496204.1:n.130G=
ENST00000533482.5:c.*1673G=	ENSP00000431225.1:n.*1673G=
NM_005732.3:c.2047G=	NP_005723.2:p.Val683=
NM_005732.4:c.2047G= MANE Select	NP_005723.2:p.Val683=