Canonical Allele Identifier: CA1583233577

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618096T= , CM000667.2:g.132618096T=	GRCh38
NC_000005.9:g.131953788T= , CM000667.1:g.131953788T=	GRCh37
NC_000005.8:g.131981687T=	NCBI36
NG_021151.1:g.66173T=
NG_021151.2:g.66120T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3191T= MANE Select	ENSP00000368100.4:p.Ile1064=
ENST00000638452.2:c.2894T=	ENSP00000492349.2:p.Ile965=
ENST00000638504.1:n.2799T=
ENST00000638568.2:c.2894T=	ENSP00000491158.2:p.Ile965=
ENST00000639899.1:n.3710T=
ENST00000640655.2:c.2894T=	ENSP00000491596.2:p.Ile965=
ENST00000651249.1:c.27T=
ENST00000378823.7:c.3191T=	ENSP00000368100.4:p.Ile1064=
ENST00000533482.5:c.*2817T=	ENSP00000431225.1:n.*2817T=
NM_005732.3:c.3191T=	NP_005723.2:p.Ile1064=
NM_005732.4:c.3191T= MANE Select	NP_005723.2:p.Ile1064=