Canonical Allele Identifier: CA360956402

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940548C>G (hg19) ; chr5:g.132604856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604856C>G , CM000667.2:g.132604856C>G	GRCh38
NC_000005.9:g.131940548C>G , CM000667.1:g.131940548C>G	GRCh37
NC_000005.8:g.131968447C>G	NCBI36
NG_021151.1:g.52933C>G
NG_021151.2:g.52880C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2575C>G MANE Select	ENSP00000368100.4:p.Gln859Glu
ENST00000638452.2:c.2278C>G	ENSP00000492349.2:p.Gln760Glu
ENST00000638504.1:n.2183C>G
ENST00000638568.2:c.2278C>G	ENSP00000491158.2:p.Gln760Glu
ENST00000639899.1:n.3094C>G
ENST00000640655.2:c.2278C>G	ENSP00000491596.2:p.Gln760Glu
ENST00000651160.1:c.*719C>G	ENSP00000498829.1:n.*719C>G
ENST00000651723.1:c.*2658C>G	ENSP00000498237.1:n.*2658C>G
ENST00000652016.1:c.*792C>G	ENSP00000498267.1:n.*792C>G
ENST00000652485.1:c.2608C>G	ENSP00000498973.1:p.Gln870Glu
ENST00000378823.7:c.2575C>G	ENSP00000368100.4:p.Gln859Glu
ENST00000423956.5:c.*761C>G	ENSP00000390971.1:n.*761C>G
ENST00000533482.5:c.*2201C>G	ENSP00000431225.1:n.*2201C>G
NM_005732.3:c.2575C>G	NP_005723.2:p.Gln859Glu
NM_005732.4:c.2575C>G MANE Select	NP_005723.2:p.Gln859Glu