Canonical Allele Identifier: CA1583241813

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594914T= , CM000667.2:g.132594914T=	GRCh38
NC_000005.9:g.131930606T= , CM000667.1:g.131930606T=	GRCh37
NC_000005.8:g.131958505T=	NCBI36
NG_021151.1:g.42991T=
NG_021151.2:g.42938T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1839T= MANE Select	ENSP00000368100.4:p.Asn613=
ENST00000638452.2:c.1542T=	ENSP00000492349.2:p.Asn514=
ENST00000638504.1:n.1480-190T=
ENST00000638568.2:c.1542T=	ENSP00000491158.2:p.Asn514=
ENST00000639899.1:n.2358T=
ENST00000640655.2:c.1542T=	ENSP00000491596.2:p.Asn514=
ENST00000651160.1:c.*16-190T=	ENSP00000498829.1:n.*16-190T=
ENST00000651658.1:n.2382T=
ENST00000651723.1:c.*1922T=	ENSP00000498237.1:n.*1922T=
ENST00000652016.1:c.*89-190T=	ENSP00000498267.1:n.*89-190T=
ENST00000652485.1:c.1872T=	ENSP00000498973.1:p.Asn624=
ENST00000378823.7:c.1839T=	ENSP00000368100.4:p.Asn613=
ENST00000423956.5:c.*25T=	ENSP00000390971.1:n.*25T=
ENST00000453394.5:c.1656T=	ENSP00000400049.1:p.Asn552=
ENST00000533482.5:c.*1465T=	ENSP00000431225.1:n.*1465T=
NM_005732.3:c.1839T=	NP_005723.2:p.Asn613=
NM_005732.4:c.1839T= MANE Select	NP_005723.2:p.Asn613=