Canonical Allele Identifier: CA1583246270

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604812G= , CM000667.2:g.132604812G=	GRCh38
NC_000005.9:g.131940504G= , CM000667.1:g.131940504G=	GRCh37
NC_000005.8:g.131968403G=	NCBI36
NG_021151.1:g.52889G=
NG_021151.2:g.52836G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2531G= MANE Select	ENSP00000368100.4:p.Ser844=
ENST00000638452.2:c.2234G=	ENSP00000492349.2:p.Ser745=
ENST00000638504.1:n.2139G=
ENST00000638568.2:c.2234G=	ENSP00000491158.2:p.Ser745=
ENST00000639899.1:n.3050G=
ENST00000640655.2:c.2234G=	ENSP00000491596.2:p.Ser745=
ENST00000651160.1:c.*675G=	ENSP00000498829.1:n.*675G=
ENST00000651723.1:c.*2614G=	ENSP00000498237.1:n.*2614G=
ENST00000652016.1:c.*748G=	ENSP00000498267.1:n.*748G=
ENST00000652485.1:c.2564G=	ENSP00000498973.1:p.Ser855=
ENST00000378823.7:c.2531G=	ENSP00000368100.4:p.Ser844=
ENST00000423956.5:c.*717G=	ENSP00000390971.1:n.*717G=
ENST00000533482.5:c.*2157G=	ENSP00000431225.1:n.*2157G=
NM_005732.3:c.2531G=	NP_005723.2:p.Ser844=
NM_005732.4:c.2531G= MANE Select	NP_005723.2:p.Ser844=