Canonical Allele Identifier: CA2675216944

Gene: RAD50

Linked Data

• gnomAD v4: 5-132589495-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589495T>A , CM000667.2:g.132589495T>A	GRCh38
NC_000005.9:g.131925187T>A , CM000667.1:g.131925187T>A	GRCh37
NC_000005.8:g.131953086T>A	NCBI36
NG_021151.1:g.37572T>A
NG_021151.2:g.37519T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1246-136T>A MANE Select	ENSP00000368100.4:n.1246-136T>A
ENST00000638452.2:c.949-136T>A	ENSP00000492349.2:n.949-136T>A
ENST00000638504.1:n.932-136T>A
ENST00000638568.2:c.949-136T>A	ENSP00000491158.2:n.949-136T>A
ENST00000639899.1:n.1765-136T>A
ENST00000640655.2:c.949-136T>A	ENSP00000491596.2:n.949-136T>A
ENST00000651160.1:c.1246-136T>A	ENSP00000498829.1:n.1246-136T>A
ENST00000651541.1:c.949-136T>A	ENSP00000498795.1:n.949-136T>A
ENST00000651658.1:n.1673-136T>A
ENST00000651723.1:c.*1329-136T>A	ENSP00000498237.1:n.*1329-136T>A
ENST00000652016.1:c.1246-136T>A	ENSP00000498267.1:n.1246-136T>A
ENST00000652485.1:c.1246-136T>A	ENSP00000498973.1:n.1246-136T>A
ENST00000378823.7:c.1246-136T>A	ENSP00000368100.4:n.1246-136T>A
ENST00000423956.5:c.1246-136T>A	ENSP00000390971.1:n.1246-136T>A
ENST00000453394.5:c.1246-136T>A	ENSP00000400049.1:n.1246-136T>A
ENST00000533482.5:c.*872-136T>A	ENSP00000431225.1:n.*872-136T>A
NM_005732.3:c.1246-136T>A	NP_005723.2:n.1246-136T>A
NM_005732.4:c.1246-136T>A MANE Select	NP_005723.2:n.1246-136T>A