Canonical Allele Identifier: CA1583246334

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604943G= , CM000667.2:g.132604943G=	GRCh38
NC_000005.9:g.131940635G= , CM000667.1:g.131940635G=	GRCh37
NC_000005.8:g.131968534G=	NCBI36
NG_021151.1:g.53020G=
NG_021151.2:g.52967G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2662G= MANE Select	ENSP00000368100.4:p.Glu888=
ENST00000638452.2:c.2365G=	ENSP00000492349.2:p.Glu789=
ENST00000638504.1:n.2270G=
ENST00000638568.2:c.2365G=	ENSP00000491158.2:p.Glu789=
ENST00000639899.1:n.3181G=
ENST00000640655.2:c.2365G=	ENSP00000491596.2:p.Glu789=
ENST00000651160.1:c.*806G=	ENSP00000498829.1:n.*806G=
ENST00000651723.1:c.*2745G=	ENSP00000498237.1:n.*2745G=
ENST00000652016.1:c.*879G=	ENSP00000498267.1:n.*879G=
ENST00000378823.7:c.2662G=	ENSP00000368100.4:p.Glu888=
ENST00000423956.5:c.*848G=	ENSP00000390971.1:n.*848G=
ENST00000533482.5:c.*2288G=	ENSP00000431225.1:n.*2288G=
NM_005732.3:c.2662G=	NP_005723.2:p.Glu888=
NM_005732.4:c.2662G= MANE Select	NP_005723.2:p.Glu888=