Canonical Allele Identifier: CA360949335

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457395
• ClinVar RCV Id: RCV000549461
• dbSNP Id: rs1554098674
• MyVariant Identifiers: chr5:g.131931301T>G (hg19) ; chr5:g.132595609T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595609T>G , CM000667.2:g.132595609T>G	GRCh38
NC_000005.9:g.131931301T>G , CM000667.1:g.131931301T>G	GRCh37
NC_000005.8:g.131959200T>G	NCBI36
NG_021151.1:g.43686T>G
NG_021151.2:g.43633T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2006T>G MANE Select	ENSP00000368100.4:p.Phe669Cys
ENST00000638452.2:c.1709T>G	ENSP00000492349.2:p.Phe570Cys
ENST00000638504.1:n.1614T>G
ENST00000638568.2:c.1709T>G	ENSP00000491158.2:p.Phe570Cys
ENST00000639899.1:n.2525T>G
ENST00000640655.2:c.1709T>G	ENSP00000491596.2:p.Phe570Cys
ENST00000651160.1:c.*150T>G	ENSP00000498829.1:n.*150T>G
ENST00000651658.1:n.2549T>G
ENST00000651723.1:c.*2089T>G	ENSP00000498237.1:n.*2089T>G
ENST00000652016.1:c.*223T>G	ENSP00000498267.1:n.*223T>G
ENST00000652485.1:c.2039T>G	ENSP00000498973.1:p.Phe680Cys
ENST00000378823.7:c.2006T>G	ENSP00000368100.4:p.Phe669Cys
ENST00000423956.5:c.*192T>G	ENSP00000390971.1:n.*192T>G
ENST00000453394.5:c.1823T>G	ENSP00000400049.1:p.Phe608Cys
ENST00000496204.1:n.89T>G
ENST00000533482.5:c.*1632T>G	ENSP00000431225.1:n.*1632T>G
NM_005732.3:c.2006T>G	NP_005723.2:p.Phe669Cys
NM_005732.4:c.2006T>G MANE Select	NP_005723.2:p.Phe669Cys