Canonical Allele Identifier: CA1583233782

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618181T= , CM000667.2:g.132618181T=	GRCh38
NC_000005.9:g.131953873T= , CM000667.1:g.131953873T=	GRCh37
NC_000005.8:g.131981772T=	NCBI36
NG_021151.1:g.66258T=
NG_021151.2:g.66205T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3276T= MANE Select	ENSP00000368100.4:p.Leu1092=
ENST00000638452.2:c.2979T=	ENSP00000492349.2:p.Leu993=
ENST00000638504.1:n.2884T=
ENST00000638568.2:c.2979T=	ENSP00000491158.2:p.Leu993=
ENST00000639899.1:n.3795T=
ENST00000640655.2:c.2979T=	ENSP00000491596.2:p.Leu993=
ENST00000651249.1:c.112T=
ENST00000378823.7:c.3276T=	ENSP00000368100.4:p.Leu1092=
ENST00000533482.5:c.*2902T=	ENSP00000431225.1:n.*2902T=
NM_005732.3:c.3276T=	NP_005723.2:p.Leu1092=
NM_005732.4:c.3276T= MANE Select	NP_005723.2:p.Leu1092=