Canonical Allele Identifier: CA360947420

Gene: RAD50

Linked Data

• ClinVar Variation Id: 961558
• ClinVar RCV Id: RCV001235269
• dbSNP Id: rs781299632
• MyVariant Identifiers: chr5:g.131930574T>G (hg19) ; chr5:g.132594882T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594882T>G , CM000667.2:g.132594882T>G	GRCh38
NC_000005.9:g.131930574T>G , CM000667.1:g.131930574T>G	GRCh37
NC_000005.8:g.131958473T>G	NCBI36
NG_021151.1:g.42959T>G
NG_021151.2:g.42906T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1807T>G MANE Select	ENSP00000368100.4:p.Ser603Ala
ENST00000638452.2:c.1510T>G	ENSP00000492349.2:p.Ser504Ala
ENST00000638504.1:n.1480-222T>G
ENST00000638568.2:c.1510T>G	ENSP00000491158.2:p.Ser504Ala
ENST00000639899.1:n.2326T>G
ENST00000640655.2:c.1510T>G	ENSP00000491596.2:p.Ser504Ala
ENST00000651160.1:c.*16-222T>G	ENSP00000498829.1:n.*16-222T>G
ENST00000651658.1:n.2350T>G
ENST00000651723.1:c.*1890T>G	ENSP00000498237.1:n.*1890T>G
ENST00000652016.1:c.*88+205T>G	ENSP00000498267.1:n.*88+205T>G
ENST00000652485.1:c.1840T>G	ENSP00000498973.1:p.Ser614Ala
ENST00000378823.7:c.1807T>G	ENSP00000368100.4:p.Ser603Ala
ENST00000423956.5:c.1649T>G	ENSP00000390971.1:p.Phe550Cys
ENST00000453394.5:c.1624T>G	ENSP00000400049.1:p.Ser542Ala
ENST00000533482.5:c.*1433T>G	ENSP00000431225.1:n.*1433T>G
NM_005732.3:c.1807T>G	NP_005723.2:p.Ser603Ala
NM_005732.4:c.1807T>G MANE Select	NP_005723.2:p.Ser603Ala