Canonical Allele Identifier: CA360955868

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939720C>G (hg19) ; chr5:g.132604028C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604028C>G , CM000667.2:g.132604028C>G	GRCh38
NC_000005.9:g.131939720C>G , CM000667.1:g.131939720C>G	GRCh37
NC_000005.8:g.131967619C>G	NCBI36
NG_021151.1:g.52105C>G
NG_021151.2:g.52052C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2506C>G MANE Select	ENSP00000368100.4:p.Gln836Glu
ENST00000638452.2:c.2209C>G	ENSP00000492349.2:p.Gln737Glu
ENST00000638504.1:n.2114C>G
ENST00000638568.2:c.2209C>G	ENSP00000491158.2:p.Gln737Glu
ENST00000639899.1:n.3025C>G
ENST00000640655.2:c.2209C>G	ENSP00000491596.2:p.Gln737Glu
ENST00000651160.1:c.*650C>G	ENSP00000498829.1:n.*650C>G
ENST00000651658.1:n.3049C>G
ENST00000651723.1:c.*2589C>G	ENSP00000498237.1:n.*2589C>G
ENST00000652016.1:c.*723C>G	ENSP00000498267.1:n.*723C>G
ENST00000652485.1:c.2539C>G	ENSP00000498973.1:p.Gln847Glu
ENST00000378823.7:c.2506C>G	ENSP00000368100.4:p.Gln836Glu
ENST00000423956.5:c.*692C>G	ENSP00000390971.1:n.*692C>G
ENST00000533482.5:c.*2132C>G	ENSP00000431225.1:n.*2132C>G
NM_005732.3:c.2506C>G	NP_005723.2:p.Gln836Glu
NM_005732.4:c.2506C>G MANE Select	NP_005723.2:p.Gln836Glu