Canonical Allele Identifier: CA1583242160

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595663T= , CM000667.2:g.132595663T=	GRCh38
NC_000005.9:g.131931355T= , CM000667.1:g.131931355T=	GRCh37
NC_000005.8:g.131959254T=	NCBI36
NG_021151.1:g.43740T=
NG_021151.2:g.43687T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2060T= MANE Select	ENSP00000368100.4:p.Val687=
ENST00000638452.2:c.1763T=	ENSP00000492349.2:p.Val588=
ENST00000638504.1:n.1668T=
ENST00000638568.2:c.1763T=	ENSP00000491158.2:p.Val588=
ENST00000639899.1:n.2579T=
ENST00000640655.2:c.1763T=	ENSP00000491596.2:p.Val588=
ENST00000651160.1:c.*204T=	ENSP00000498829.1:n.*204T=
ENST00000651658.1:n.2603T=
ENST00000651723.1:c.*2143T=	ENSP00000498237.1:n.*2143T=
ENST00000652016.1:c.*277T=	ENSP00000498267.1:n.*277T=
ENST00000652485.1:c.2093T=	ENSP00000498973.1:p.Val698=
ENST00000378823.7:c.2060T=	ENSP00000368100.4:p.Val687=
ENST00000423956.5:c.*246T=	ENSP00000390971.1:n.*246T=
ENST00000453394.5:c.1877T=	ENSP00000400049.1:p.Val626=
ENST00000496204.1:n.143T=
ENST00000533482.5:c.*1686T=	ENSP00000431225.1:n.*1686T=
NM_005732.3:c.2060T=	NP_005723.2:p.Val687=
NM_005732.4:c.2060T= MANE Select	NP_005723.2:p.Val687=