Canonical Allele Identifier: CA1583246322

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604922T= , CM000667.2:g.132604922T=	GRCh38
NC_000005.9:g.131940614T= , CM000667.1:g.131940614T=	GRCh37
NC_000005.8:g.131968513T=	NCBI36
NG_021151.1:g.52999T=
NG_021151.2:g.52946T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2641T= MANE Select	ENSP00000368100.4:p.Leu881=
ENST00000638452.2:c.2344T=	ENSP00000492349.2:p.Leu782=
ENST00000638504.1:n.2249T=
ENST00000638568.2:c.2344T=	ENSP00000491158.2:p.Leu782=
ENST00000639899.1:n.3160T=
ENST00000640655.2:c.2344T=	ENSP00000491596.2:p.Leu782=
ENST00000651160.1:c.*785T=	ENSP00000498829.1:n.*785T=
ENST00000651723.1:c.*2724T=	ENSP00000498237.1:n.*2724T=
ENST00000652016.1:c.*858T=	ENSP00000498267.1:n.*858T=
ENST00000652485.1:c.2674T=	ENSP00000498973.1:p.Leu892=
ENST00000378823.7:c.2641T=	ENSP00000368100.4:p.Leu881=
ENST00000423956.5:c.*827T=	ENSP00000390971.1:n.*827T=
ENST00000533482.5:c.*2267T=	ENSP00000431225.1:n.*2267T=
NM_005732.3:c.2641T=	NP_005723.2:p.Leu881=
NM_005732.4:c.2641T= MANE Select	NP_005723.2:p.Leu881=