Canonical Allele Identifier: CA1583246294

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604870A= , CM000667.2:g.132604870A=	GRCh38
NC_000005.9:g.131940562A= , CM000667.1:g.131940562A=	GRCh37
NC_000005.8:g.131968461A=	NCBI36
NG_021151.1:g.52947A=
NG_021151.2:g.52894A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2589A= MANE Select	ENSP00000368100.4:p.Leu863=
ENST00000638452.2:c.2292A=	ENSP00000492349.2:p.Leu764=
ENST00000638504.1:n.2197A=
ENST00000638568.2:c.2292A=	ENSP00000491158.2:p.Leu764=
ENST00000639899.1:n.3108A=
ENST00000640655.2:c.2292A=	ENSP00000491596.2:p.Leu764=
ENST00000651160.1:c.*733A=	ENSP00000498829.1:n.*733A=
ENST00000651723.1:c.*2672A=	ENSP00000498237.1:n.*2672A=
ENST00000652016.1:c.*806A=	ENSP00000498267.1:n.*806A=
ENST00000652485.1:c.2622A=	ENSP00000498973.1:p.Leu874=
ENST00000378823.7:c.2589A=	ENSP00000368100.4:p.Leu863=
ENST00000423956.5:c.*775A=	ENSP00000390971.1:n.*775A=
ENST00000533482.5:c.*2215A=	ENSP00000431225.1:n.*2215A=
NM_005732.3:c.2589A=	NP_005723.2:p.Leu863=
NM_005732.4:c.2589A= MANE Select	NP_005723.2:p.Leu863=