Canonical Allele Identifier: CA1583241792

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594880C= , CM000667.2:g.132594880C=	GRCh38
NC_000005.9:g.131930572C= , CM000667.1:g.131930572C=	GRCh37
NC_000005.8:g.131958471C=	NCBI36
NG_021151.1:g.42957C=
NG_021151.2:g.42904C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1805C= MANE Select	ENSP00000368100.4:p.Ala602=
ENST00000638452.2:c.1508C=	ENSP00000492349.2:p.Ala503=
ENST00000638504.1:n.1480-224C=
ENST00000638568.2:c.1508C=	ENSP00000491158.2:p.Ala503=
ENST00000639899.1:n.2324C=
ENST00000640655.2:c.1508C=	ENSP00000491596.2:p.Ala503=
ENST00000651160.1:c.*16-224C=	ENSP00000498829.1:n.*16-224C=
ENST00000651658.1:n.2348C=
ENST00000651723.1:c.*1888C=	ENSP00000498237.1:n.*1888C=
ENST00000652016.1:c.*88+203C=	ENSP00000498267.1:n.*88+203C=
ENST00000652485.1:c.1838C=	ENSP00000498973.1:p.Ala613=
ENST00000378823.7:c.1805C=	ENSP00000368100.4:p.Ala602=
ENST00000423956.5:c.1647C=	ENSP00000390971.1:p.Ser549=
ENST00000453394.5:c.1622C=	ENSP00000400049.1:p.Ala541=
ENST00000533482.5:c.*1431C=	ENSP00000431225.1:n.*1431C=
NM_005732.3:c.1805C=	NP_005723.2:p.Ala602=
NM_005732.4:c.1805C= MANE Select	NP_005723.2:p.Ala602=