Canonical Allele Identifier: CA2675215573

Gene: RAD50

Linked Data

• gnomAD v4: 5-132557008-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557008C>A , CM000667.2:g.132557008C>A	GRCh38
NC_000005.9:g.131892700C>A , CM000667.1:g.131892700C>A	GRCh37
NC_000005.8:g.131920599C>A	NCBI36
NG_021151.1:g.5085C>A
NG_021151.2:g.5032C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-317C>A MANE Select	ENSP00000368100.4:n.-317C>A
ENST00000638452.2:c.-168-2276C>A	ENSP00000492349.2:n.-168-2276C>A
ENST00000638504.1:n.207-2276C>A
ENST00000638568.2:c.-169+535C>A	ENSP00000491158.2:n.-169+535C>A
ENST00000639899.1:n.290-2276C>A
ENST00000640655.2:c.-168-2276C>A	ENSP00000491596.2:n.-168-2276C>A
ENST00000651160.1:c.-317C>A	ENSP00000498829.1:n.-317C>A
ENST00000651541.1:c.-170C>A	ENSP00000498795.1:n.-170C>A
ENST00000652016.1:c.-317C>A	ENSP00000498267.1:n.-317C>A
ENST00000652485.1:c.-317C>A	ENSP00000498973.1:n.-317C>A
ENST00000378823.7:c.-317C>A	ENSP00000368100.4:n.-317C>A
ENST00000416135.5:c.-169+535C>A	ENSP00000389515.1:n.-169+535C>A
ENST00000533482.5:c.-317C>A	ENSP00000431225.1:n.-317C>A
NM_005732.3:c.-317C>A	NP_005723.2:n.-317C>A
NM_005732.4:c.-317C>A MANE Select	NP_005723.2:n.-317C>A