Canonical Allele Identifier: CA1583245852

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603926C= , CM000667.2:g.132603926C=	GRCh38
NC_000005.9:g.131939618C= , CM000667.1:g.131939618C=	GRCh37
NC_000005.8:g.131967517C=	NCBI36
NG_021151.1:g.52003C=
NG_021151.2:g.51950C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2404C= MANE Select	ENSP00000368100.4:p.Leu802=
ENST00000638452.2:c.2107C=	ENSP00000492349.2:p.Leu703=
ENST00000638504.1:n.2012C=
ENST00000638568.2:c.2107C=	ENSP00000491158.2:p.Leu703=
ENST00000639899.1:n.2923C=
ENST00000640655.2:c.2107C=	ENSP00000491596.2:p.Leu703=
ENST00000651160.1:c.*548C=	ENSP00000498829.1:n.*548C=
ENST00000651658.1:n.2947C=
ENST00000651723.1:c.*2487C=	ENSP00000498237.1:n.*2487C=
ENST00000652016.1:c.*621C=	ENSP00000498267.1:n.*621C=
ENST00000652485.1:c.2437C=	ENSP00000498973.1:p.Leu813=
ENST00000378823.7:c.2404C=	ENSP00000368100.4:p.Leu802=
ENST00000423956.5:c.*590C=	ENSP00000390971.1:n.*590C=
ENST00000533482.5:c.*2030C=	ENSP00000431225.1:n.*2030C=
NM_005732.3:c.2404C=	NP_005723.2:p.Leu802=
NM_005732.4:c.2404C= MANE Select	NP_005723.2:p.Leu802=