Canonical Allele Identifier: CA1583227131

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579953C= , CM000667.2:g.132579953C=	GRCh38
NC_000005.9:g.131915645C= , CM000667.1:g.131915645C=	GRCh37
NC_000005.8:g.131943544C=	NCBI36
NG_021151.1:g.28030C=
NG_021151.2:g.27977C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.643C= MANE Select	ENSP00000368100.4:p.Gln215=
ENST00000638452.2:c.346C=	ENSP00000492349.2:p.Gln116=
ENST00000638504.1:n.442+4025C=
ENST00000638568.2:c.346C=	ENSP00000491158.2:p.Gln116=
ENST00000639899.1:n.1162C=
ENST00000640655.2:c.346C=	ENSP00000491596.2:p.Gln116=
ENST00000651160.1:c.643C=	ENSP00000498829.1:p.Gln215=
ENST00000651541.1:c.346C=	ENSP00000498795.1:p.Gln116=
ENST00000651658.1:n.1070C=
ENST00000651723.1:c.*726C=	ENSP00000498237.1:n.*726C=
ENST00000652016.1:c.643C=	ENSP00000498267.1:p.Gln215=
ENST00000652485.1:c.643C=	ENSP00000498973.1:p.Gln215=
ENST00000378823.7:c.643C=	ENSP00000368100.4:p.Gln215=
ENST00000423956.5:c.643C=	ENSP00000390971.1:p.Gln215=
ENST00000453394.5:c.643C=	ENSP00000400049.1:p.Gln215=
ENST00000487596.1:n.209C=
ENST00000533482.5:c.*269C=	ENSP00000431225.1:n.*269C=
NM_005732.3:c.643C=	NP_005723.2:p.Gln215=
NM_005732.4:c.643C= MANE Select	NP_005723.2:p.Gln215=