Canonical Allele Identifier: CA1583241866

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595016G= , CM000667.2:g.132595016G=	GRCh38
NC_000005.9:g.131930708G= , CM000667.1:g.131930708G=	GRCh37
NC_000005.8:g.131958607G=	NCBI36
NG_021151.1:g.43093G=
NG_021151.2:g.43040G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1941G= MANE Select	ENSP00000368100.4:p.Glu647=
ENST00000638452.2:c.1644G=	ENSP00000492349.2:p.Glu548=
ENST00000638504.1:n.1480-88G=
ENST00000638568.2:c.1644G=	ENSP00000491158.2:p.Glu548=
ENST00000639899.1:n.2460G=
ENST00000640655.2:c.1644G=	ENSP00000491596.2:p.Glu548=
ENST00000651160.1:c.*16-88G=	ENSP00000498829.1:n.*16-88G=
ENST00000651658.1:n.2484G=
ENST00000651723.1:c.*2024G=	ENSP00000498237.1:n.*2024G=
ENST00000652016.1:c.*89-88G=	ENSP00000498267.1:n.*89-88G=
ENST00000652485.1:c.1974G=	ENSP00000498973.1:p.Glu658=
ENST00000378823.7:c.1941G=	ENSP00000368100.4:p.Glu647=
ENST00000423956.5:c.*127G=	ENSP00000390971.1:n.*127G=
ENST00000453394.5:c.1758G=	ENSP00000400049.1:p.Glu586=
ENST00000533482.5:c.*1567G=	ENSP00000431225.1:n.*1567G=
NM_005732.3:c.1941G=	NP_005723.2:p.Glu647=
NM_005732.4:c.1941G= MANE Select	NP_005723.2:p.Glu647=