Canonical Allele Identifier: CA360956417

Gene: RAD50

Linked Data

• ClinVar Variation Id: 821513
• ClinVar RCV Id: RCV001015999
• dbSNP Id: rs1581002056
• MyVariant Identifiers: chr5:g.131940551A>T (hg19) ; chr5:g.132604859A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604859A>T , CM000667.2:g.132604859A>T	GRCh38
NC_000005.9:g.131940551A>T , CM000667.1:g.131940551A>T	GRCh37
NC_000005.8:g.131968450A>T	NCBI36
NG_021151.1:g.52936A>T
NG_021151.2:g.52883A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2578A>T MANE Select	ENSP00000368100.4:p.Ile860Phe
ENST00000638452.2:c.2281A>T	ENSP00000492349.2:p.Ile761Phe
ENST00000638504.1:n.2186A>T
ENST00000638568.2:c.2281A>T	ENSP00000491158.2:p.Ile761Phe
ENST00000639899.1:n.3097A>T
ENST00000640655.2:c.2281A>T	ENSP00000491596.2:p.Ile761Phe
ENST00000651160.1:c.*722A>T	ENSP00000498829.1:n.*722A>T
ENST00000651723.1:c.*2661A>T	ENSP00000498237.1:n.*2661A>T
ENST00000652016.1:c.*795A>T	ENSP00000498267.1:n.*795A>T
ENST00000652485.1:c.2611A>T	ENSP00000498973.1:p.Ile871Phe
ENST00000378823.7:c.2578A>T	ENSP00000368100.4:p.Ile860Phe
ENST00000423956.5:c.*764A>T	ENSP00000390971.1:n.*764A>T
ENST00000533482.5:c.*2204A>T	ENSP00000431225.1:n.*2204A>T
NM_005732.3:c.2578A>T	NP_005723.2:p.Ile860Phe
NM_005732.4:c.2578A>T MANE Select	NP_005723.2:p.Ile860Phe