Canonical Allele Identifier: CA446495370

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2451402
• ClinVar RCV Id: RCV003182418
• MyVariant Identifiers: chr5:g.131945082A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609390A>T , CM000667.2:g.132609390A>T	GRCh38
NC_000005.9:g.131945082A>T , CM000667.1:g.131945082A>T	GRCh37
NC_000005.8:g.131972981A>T	NCBI36
NG_021151.1:g.57467A>T
NG_021151.2:g.57414A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3030A>T MANE Select	ENSP00000368100.4:p.Thr1010=
ENST00000638452.2:c.2733A>T	ENSP00000492349.2:p.Thr911=
ENST00000638504.1:n.2638A>T
ENST00000638568.2:c.2733A>T	ENSP00000491158.2:p.Thr911=
ENST00000639899.1:n.3549A>T
ENST00000640655.2:c.2733A>T	ENSP00000491596.2:p.Thr911=
ENST00000651723.1:c.*3113A>T	ENSP00000498237.1:n.*3113A>T
ENST00000378823.7:c.3030A>T	ENSP00000368100.4:p.Thr1010=
ENST00000533482.5:c.*2656A>T	ENSP00000431225.1:n.*2656A>T
NM_005732.3:c.3030A>T	NP_005723.2:p.Thr1010=
NM_005732.4:c.3030A>T MANE Select	NP_005723.2:p.Thr1010=