Canonical Allele Identifier: CA1583233683

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618124G= , CM000667.2:g.132618124G=	GRCh38
NC_000005.9:g.131953816G= , CM000667.1:g.131953816G=	GRCh37
NC_000005.8:g.131981715G=	NCBI36
NG_021151.1:g.66201G=
NG_021151.2:g.66148G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3219G= MANE Select	ENSP00000368100.4:p.Leu1073=
ENST00000638452.2:c.2922G=	ENSP00000492349.2:p.Leu974=
ENST00000638504.1:n.2827G=
ENST00000638568.2:c.2922G=	ENSP00000491158.2:p.Leu974=
ENST00000639899.1:n.3738G=
ENST00000640655.2:c.2922G=	ENSP00000491596.2:p.Leu974=
ENST00000651249.1:c.55G=
ENST00000378823.7:c.3219G=	ENSP00000368100.4:p.Leu1073=
ENST00000533482.5:c.*2845G=	ENSP00000431225.1:n.*2845G=
NM_005732.3:c.3219G=	NP_005723.2:p.Leu1073=
NM_005732.4:c.3219G= MANE Select	NP_005723.2:p.Leu1073=