Canonical Allele Identifier: CA2675217555

Gene: RAD50

Linked Data

• gnomAD v4: 5-132603897-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603897A>G , CM000667.2:g.132603897A>G	GRCh38
NC_000005.9:g.131939589A>G , CM000667.1:g.131939589A>G	GRCh37
NC_000005.8:g.131967488A>G	NCBI36
NG_021151.1:g.51974A>G
NG_021151.2:g.51921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2398-23A>G MANE Select	ENSP00000368100.4:n.2398-23A>G
ENST00000638452.2:c.2101-23A>G	ENSP00000492349.2:n.2101-23A>G
ENST00000638504.1:n.2006-23A>G
ENST00000638568.2:c.2101-23A>G	ENSP00000491158.2:n.2101-23A>G
ENST00000639899.1:n.2917-23A>G
ENST00000640655.2:c.2101-23A>G	ENSP00000491596.2:n.2101-23A>G
ENST00000651160.1:c.*542-23A>G	ENSP00000498829.1:n.*542-23A>G
ENST00000651658.1:n.2941-23A>G
ENST00000651723.1:c.*2481-23A>G	ENSP00000498237.1:n.*2481-23A>G
ENST00000652016.1:c.*615-23A>G	ENSP00000498267.1:n.*615-23A>G
ENST00000652485.1:c.2431-23A>G	ENSP00000498973.1:n.2431-23A>G
ENST00000378823.7:c.2398-23A>G	ENSP00000368100.4:n.2398-23A>G
ENST00000423956.5:c.*584-23A>G	ENSP00000390971.1:n.*584-23A>G
ENST00000533482.5:c.*2024-23A>G	ENSP00000431225.1:n.*2024-23A>G
NM_005732.3:c.2398-23A>G	NP_005723.2:n.2398-23A>G
NM_005732.4:c.2398-23A>G MANE Select	NP_005723.2:n.2398-23A>G