Canonical Allele Identifier: CA2578402609

Gene: RAD50

Linked Data

• gnomAD v4: 5-132589911-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589911C>A , CM000667.2:g.132589911C>A	GRCh38
NC_000005.9:g.131925603C>A , CM000667.1:g.131925603C>A	GRCh37
NC_000005.8:g.131953502C>A	NCBI36
NG_021151.1:g.37988C>A
NG_021151.2:g.37935C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1452+74C>A MANE Select	ENSP00000368100.4:n.1452+74C>A
ENST00000638452.2:c.1155+74C>A	ENSP00000492349.2:n.1155+74C>A
ENST00000638504.1:n.1138+74C>A
ENST00000638568.2:c.1155+74C>A	ENSP00000491158.2:n.1155+74C>A
ENST00000639899.1:n.1971+74C>A
ENST00000640655.2:c.1155+74C>A	ENSP00000491596.2:n.1155+74C>A
ENST00000651160.1:c.1452+74C>A	ENSP00000498829.1:n.1452+74C>A
ENST00000651541.1:c.1155+74C>A	ENSP00000498795.1:n.1155+74C>A
ENST00000651658.1:n.1879+74C>A
ENST00000651723.1:c.*1535+74C>A	ENSP00000498237.1:n.*1535+74C>A
ENST00000652016.1:c.1452+74C>A	ENSP00000498267.1:n.1452+74C>A
ENST00000652485.1:c.1452+74C>A	ENSP00000498973.1:n.1452+74C>A
ENST00000378823.7:c.1452+74C>A	ENSP00000368100.4:n.1452+74C>A
ENST00000423956.5:c.1452+74C>A	ENSP00000390971.1:n.1452+74C>A
ENST00000453394.5:c.1452+74C>A	ENSP00000400049.1:n.1452+74C>A
ENST00000533482.5:c.*1078+74C>A	ENSP00000431225.1:n.*1078+74C>A
NM_005732.3:c.1452+74C>A	NP_005723.2:n.1452+74C>A
NM_005732.4:c.1452+74C>A MANE Select	NP_005723.2:n.1452+74C>A