Canonical Allele Identifier: CA1583238172

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588812A= , CM000667.2:g.132588812A=	GRCh38
NC_000005.9:g.131924504A= , CM000667.1:g.131924504A=	GRCh37
NC_000005.8:g.131952403A=	NCBI36
NG_021151.1:g.36889A=
NG_021151.2:g.36836A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1177A= MANE Select	ENSP00000368100.4:p.Ile393=
ENST00000638452.2:c.880A=	ENSP00000492349.2:p.Ile294=
ENST00000638504.1:n.863A=
ENST00000638568.2:c.880A=	ENSP00000491158.2:p.Ile294=
ENST00000639899.1:n.1696A=
ENST00000640655.2:c.880A=	ENSP00000491596.2:p.Ile294=
ENST00000651160.1:c.1177A=	ENSP00000498829.1:p.Ile393=
ENST00000651541.1:c.880A=	ENSP00000498795.1:p.Ile294=
ENST00000651658.1:n.1604A=
ENST00000651723.1:c.*1260A=	ENSP00000498237.1:n.*1260A=
ENST00000652016.1:c.1177A=	ENSP00000498267.1:p.Ile393=
ENST00000652485.1:c.1177A=	ENSP00000498973.1:p.Ile393=
ENST00000378823.7:c.1177A=	ENSP00000368100.4:p.Ile393=
ENST00000423956.5:c.1177A=	ENSP00000390971.1:p.Ile393=
ENST00000453394.5:c.1177A=	ENSP00000400049.1:p.Ile393=
ENST00000533482.5:c.*803A=	ENSP00000431225.1:n.*803A=
NM_005732.3:c.1177A=	NP_005723.2:p.Ile393=
NM_005732.4:c.1177A= MANE Select	NP_005723.2:p.Ile393=