Canonical Allele Identifier: CA2675219200

Gene: RAD50

Linked Data

• gnomAD v4: 5-132618427-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618427G>A , CM000667.2:g.132618427G>A	GRCh38
NC_000005.9:g.131954119G>A , CM000667.1:g.131954119G>A	GRCh37
NC_000005.8:g.131982018G>A	NCBI36
NG_021151.1:g.66504G>A
NG_021151.2:g.66451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3389+133G>A MANE Select	ENSP00000368100.4:n.3389+133G>A
ENST00000638452.2:c.3092+133G>A	ENSP00000492349.2:n.3092+133G>A
ENST00000638504.1:n.2997+133G>A
ENST00000638568.2:c.3092+133G>A	ENSP00000491158.2:n.3092+133G>A
ENST00000639899.1:n.3908+133G>A
ENST00000640655.2:c.3092+133G>A	ENSP00000491596.2:n.3092+133G>A
ENST00000651249.1:c.225+133G>A
ENST00000378823.7:c.3389+133G>A	ENSP00000368100.4:n.3389+133G>A
ENST00000455677.1:c.24+133G>A
ENST00000533482.5:c.*3015+133G>A	ENSP00000431225.1:n.*3015+133G>A
NM_005732.3:c.3389+133G>A	NP_005723.2:n.3389+133G>A
NM_005732.4:c.3389+133G>A MANE Select	NP_005723.2:n.3389+133G>A