Canonical Allele Identifier: CA1583245905

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604030G= , CM000667.2:g.132604030G=	GRCh38
NC_000005.9:g.131939722G= , CM000667.1:g.131939722G=	GRCh37
NC_000005.8:g.131967621G=	NCBI36
NG_021151.1:g.52107G=
NG_021151.2:g.52054G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2508G= MANE Select	ENSP00000368100.4:p.Gln836=
ENST00000638452.2:c.2211G=	ENSP00000492349.2:p.Gln737=
ENST00000638504.1:n.2116G=
ENST00000638568.2:c.2211G=	ENSP00000491158.2:p.Gln737=
ENST00000639899.1:n.3027G=
ENST00000640655.2:c.2211G=	ENSP00000491596.2:p.Gln737=
ENST00000651160.1:c.*652G=	ENSP00000498829.1:n.*652G=
ENST00000651658.1:n.3051G=
ENST00000651723.1:c.*2591G=	ENSP00000498237.1:n.*2591G=
ENST00000652016.1:c.*725G=	ENSP00000498267.1:n.*725G=
ENST00000652485.1:c.2541G=	ENSP00000498973.1:p.Gln847=
ENST00000378823.7:c.2508G=	ENSP00000368100.4:p.Gln836=
ENST00000423956.5:c.*694G=	ENSP00000390971.1:n.*694G=
ENST00000533482.5:c.*2134G=	ENSP00000431225.1:n.*2134G=
NM_005732.3:c.2508G=	NP_005723.2:p.Gln836=
NM_005732.4:c.2508G= MANE Select	NP_005723.2:p.Gln836=