Canonical Allele Identifier: CA1583246273

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604818T= , CM000667.2:g.132604818T=	GRCh38
NC_000005.9:g.131940510T= , CM000667.1:g.131940510T=	GRCh37
NC_000005.8:g.131968409T=	NCBI36
NG_021151.1:g.52895T=
NG_021151.2:g.52842T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2537T= MANE Select	ENSP00000368100.4:p.Ile846=
ENST00000638452.2:c.2240T=	ENSP00000492349.2:p.Ile747=
ENST00000638504.1:n.2145T=
ENST00000638568.2:c.2240T=	ENSP00000491158.2:p.Ile747=
ENST00000639899.1:n.3056T=
ENST00000640655.2:c.2240T=	ENSP00000491596.2:p.Ile747=
ENST00000651160.1:c.*681T=	ENSP00000498829.1:n.*681T=
ENST00000651723.1:c.*2620T=	ENSP00000498237.1:n.*2620T=
ENST00000652016.1:c.*754T=	ENSP00000498267.1:n.*754T=
ENST00000652485.1:c.2570T=	ENSP00000498973.1:p.Ile857=
ENST00000378823.7:c.2537T=	ENSP00000368100.4:p.Ile846=
ENST00000423956.5:c.*723T=	ENSP00000390971.1:n.*723T=
ENST00000533482.5:c.*2163T=	ENSP00000431225.1:n.*2163T=
NM_005732.3:c.2537T=	NP_005723.2:p.Ile846=
NM_005732.4:c.2537T= MANE Select	NP_005723.2:p.Ile846=