Canonical Allele Identifier: CA360956442

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940557C>A (hg19) ; chr5:g.132604865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604865C>A , CM000667.2:g.132604865C>A	GRCh38
NC_000005.9:g.131940557C>A , CM000667.1:g.131940557C>A	GRCh37
NC_000005.8:g.131968456C>A	NCBI36
NG_021151.1:g.52942C>A
NG_021151.2:g.52889C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2584C>A MANE Select	ENSP00000368100.4:p.His862Asn
ENST00000638452.2:c.2287C>A	ENSP00000492349.2:p.His763Asn
ENST00000638504.1:n.2192C>A
ENST00000638568.2:c.2287C>A	ENSP00000491158.2:p.His763Asn
ENST00000639899.1:n.3103C>A
ENST00000640655.2:c.2287C>A	ENSP00000491596.2:p.His763Asn
ENST00000651160.1:c.*728C>A	ENSP00000498829.1:n.*728C>A
ENST00000651723.1:c.*2667C>A	ENSP00000498237.1:n.*2667C>A
ENST00000652016.1:c.*801C>A	ENSP00000498267.1:n.*801C>A
ENST00000652485.1:c.2617C>A	ENSP00000498973.1:p.His873Asn
ENST00000378823.7:c.2584C>A	ENSP00000368100.4:p.His862Asn
ENST00000423956.5:c.*770C>A	ENSP00000390971.1:n.*770C>A
ENST00000533482.5:c.*2210C>A	ENSP00000431225.1:n.*2210C>A
NM_005732.3:c.2584C>A	NP_005723.2:p.His862Asn
NM_005732.4:c.2584C>A MANE Select	NP_005723.2:p.His862Asn