Canonical Allele Identifier: CA1583246332

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604941T= , CM000667.2:g.132604941T=	GRCh38
NC_000005.9:g.131940633T= , CM000667.1:g.131940633T=	GRCh37
NC_000005.8:g.131968532T=	NCBI36
NG_021151.1:g.53018T=
NG_021151.2:g.52965T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2660T= MANE Select	ENSP00000368100.4:p.Leu887=
ENST00000638452.2:c.2363T=	ENSP00000492349.2:p.Leu788=
ENST00000638504.1:n.2268T=
ENST00000638568.2:c.2363T=	ENSP00000491158.2:p.Leu788=
ENST00000639899.1:n.3179T=
ENST00000640655.2:c.2363T=	ENSP00000491596.2:p.Leu788=
ENST00000651160.1:c.*804T=	ENSP00000498829.1:n.*804T=
ENST00000651723.1:c.*2743T=	ENSP00000498237.1:n.*2743T=
ENST00000652016.1:c.*877T=	ENSP00000498267.1:n.*877T=
ENST00000378823.7:c.2660T=	ENSP00000368100.4:p.Leu887=
ENST00000423956.5:c.*846T=	ENSP00000390971.1:n.*846T=
ENST00000533482.5:c.*2286T=	ENSP00000431225.1:n.*2286T=
NM_005732.3:c.2660T=	NP_005723.2:p.Leu887=
NM_005732.4:c.2660T= MANE Select	NP_005723.2:p.Leu887=