Canonical Allele Identifier: CA1583241796

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594888G= , CM000667.2:g.132594888G=	GRCh38
NC_000005.9:g.131930580G= , CM000667.1:g.131930580G=	GRCh37
NC_000005.8:g.131958479G=	NCBI36
NG_021151.1:g.42965G=
NG_021151.2:g.42912G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1813G= MANE Select	ENSP00000368100.4:p.Glu605=
ENST00000638452.2:c.1516G=	ENSP00000492349.2:p.Glu506=
ENST00000638504.1:n.1480-216G=
ENST00000638568.2:c.1516G=	ENSP00000491158.2:p.Glu506=
ENST00000639899.1:n.2332G=
ENST00000640655.2:c.1516G=	ENSP00000491596.2:p.Glu506=
ENST00000651160.1:c.*16-216G=	ENSP00000498829.1:n.*16-216G=
ENST00000651658.1:n.2356G=
ENST00000651723.1:c.*1896G=	ENSP00000498237.1:n.*1896G=
ENST00000652016.1:c.*88+211G=	ENSP00000498267.1:n.*88+211G=
ENST00000652485.1:c.1846G=	ENSP00000498973.1:p.Glu616=
ENST00000378823.7:c.1813G=	ENSP00000368100.4:p.Glu605=
ENST00000423956.5:c.1655G=	ENSP00000390971.1:p.Ter552=
ENST00000453394.5:c.1630G=	ENSP00000400049.1:p.Glu544=
ENST00000533482.5:c.*1439G=	ENSP00000431225.1:n.*1439G=
NM_005732.3:c.1813G=	NP_005723.2:p.Glu605=
NM_005732.4:c.1813G= MANE Select	NP_005723.2:p.Glu605=