Canonical Allele Identifier: CA360949495

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131931327C>A (hg19) ; chr5:g.132595635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595635C>A , CM000667.2:g.132595635C>A	GRCh38
NC_000005.9:g.131931327C>A , CM000667.1:g.131931327C>A	GRCh37
NC_000005.8:g.131959226C>A	NCBI36
NG_021151.1:g.43712C>A
NG_021151.2:g.43659C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2032C>A MANE Select	ENSP00000368100.4:p.Gln678Lys
ENST00000638452.2:c.1735C>A	ENSP00000492349.2:p.Gln579Lys
ENST00000638504.1:n.1640C>A
ENST00000638568.2:c.1735C>A	ENSP00000491158.2:p.Gln579Lys
ENST00000639899.1:n.2551C>A
ENST00000640655.2:c.1735C>A	ENSP00000491596.2:p.Gln579Lys
ENST00000651160.1:c.*176C>A	ENSP00000498829.1:n.*176C>A
ENST00000651658.1:n.2575C>A
ENST00000651723.1:c.*2115C>A	ENSP00000498237.1:n.*2115C>A
ENST00000652016.1:c.*249C>A	ENSP00000498267.1:n.*249C>A
ENST00000652485.1:c.2065C>A	ENSP00000498973.1:p.Gln689Lys
ENST00000378823.7:c.2032C>A	ENSP00000368100.4:p.Gln678Lys
ENST00000423956.5:c.*218C>A	ENSP00000390971.1:n.*218C>A
ENST00000453394.5:c.1849C>A	ENSP00000400049.1:p.Gln617Lys
ENST00000496204.1:n.115C>A
ENST00000533482.5:c.*1658C>A	ENSP00000431225.1:n.*1658C>A
NM_005732.3:c.2032C>A	NP_005723.2:p.Gln678Lys
NM_005732.4:c.2032C>A MANE Select	NP_005723.2:p.Gln678Lys