Canonical Allele Identifier: CA360956751

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940629C>A (hg19) ; chr5:g.132604937C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604937C>A , CM000667.2:g.132604937C>A	GRCh38
NC_000005.9:g.131940629C>A , CM000667.1:g.131940629C>A	GRCh37
NC_000005.8:g.131968528C>A	NCBI36
NG_021151.1:g.53014C>A
NG_021151.2:g.52961C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2656C>A MANE Select	ENSP00000368100.4:p.Gln886Lys
ENST00000638452.2:c.2359C>A	ENSP00000492349.2:p.Gln787Lys
ENST00000638504.1:n.2264C>A
ENST00000638568.2:c.2359C>A	ENSP00000491158.2:p.Gln787Lys
ENST00000639899.1:n.3175C>A
ENST00000640655.2:c.2359C>A	ENSP00000491596.2:p.Gln787Lys
ENST00000651160.1:c.*800C>A	ENSP00000498829.1:n.*800C>A
ENST00000651723.1:c.*2739C>A	ENSP00000498237.1:n.*2739C>A
ENST00000652016.1:c.*873C>A	ENSP00000498267.1:n.*873C>A
ENST00000378823.7:c.2656C>A	ENSP00000368100.4:p.Gln886Lys
ENST00000423956.5:c.*842C>A	ENSP00000390971.1:n.*842C>A
ENST00000533482.5:c.*2282C>A	ENSP00000431225.1:n.*2282C>A
NM_005732.3:c.2656C>A	NP_005723.2:p.Gln886Lys
NM_005732.4:c.2656C>A MANE Select	NP_005723.2:p.Gln886Lys