Canonical Allele Identifier: CA360956400

Gene: RAD50

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2575C>A MANE Select	ENSP00000368100.4:p.Gln859Lys
ENST00000638452.2:c.2278C>A	ENSP00000492349.2:p.Gln760Lys
ENST00000638504.1:n.2183C>A
ENST00000638568.2:c.2278C>A	ENSP00000491158.2:p.Gln760Lys
ENST00000639899.1:n.3094C>A
ENST00000640655.2:c.2278C>A	ENSP00000491596.2:p.Gln760Lys
ENST00000651160.1:c.*719C>A	ENSP00000498829.1:n.*719C>A
ENST00000651723.1:c.*2658C>A	ENSP00000498237.1:n.*2658C>A
ENST00000652016.1:c.*792C>A	ENSP00000498267.1:n.*792C>A
ENST00000652485.1:c.2608C>A	ENSP00000498973.1:p.Gln870Lys
ENST00000378823.7:c.2575C>A	ENSP00000368100.4:p.Gln859Lys
ENST00000423956.5:c.*761C>A	ENSP00000390971.1:n.*761C>A
ENST00000533482.5:c.*2201C>A	ENSP00000431225.1:n.*2201C>A
NM_005732.3:c.2575C>A	NP_005723.2:p.Gln859Lys
NM_005732.4:c.2575C>A MANE Select	NP_005723.2:p.Gln859Lys