Canonical Allele Identifier: CA562770489

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs1381678328
• gnomAD v2: 5-131978092-T-A
• gnomAD v4: 5-132642400-T-A
• MyVariant Identifiers: chr5:g.131978092T>A (hg19) ; chr5:g.132642400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642400T>A , CM000667.2:g.132642400T>A	GRCh38
NC_000005.9:g.131978092T>A , CM000667.1:g.131978092T>A	GRCh37
NC_000005.8:g.132005991T>A	NCBI36
NG_021151.1:g.90477T>A
NG_021151.2:g.90424T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.*36T>A (RAD50) MANE Select	ENSP00000368100.4:n.*36T>A
ENST00000638452.2:c.*36T>A	ENSP00000492349.2:n.*36T>A
ENST00000638504.1:n.3583T>A
ENST00000638568.2:c.*36T>A	ENSP00000491158.2:n.*36T>A
ENST00000639899.1:n.4494T>A
ENST00000640655.2:c.*36T>A	ENSP00000491596.2:n.*36T>A
ENST00000651249.1:c.805+6T>A (RAD50)
ENST00000378823.7:c.*36T>A (RAD50)	ENSP00000368100.4:n.*36T>A
ENST00000455677.1:c.388-605T>A (RAD50)
ENST00000533482.5:c.*3601T>A (RAD50)	ENSP00000431225.1:n.*3601T>A
NM_005732.3:c.*36T>A (RAD50)	NP_005723.2:n.*36T>A
NR_132125.1:n.105-118A>T (TH2LCRR)
NR_132126.1:n.175-4135A>T (TH2LCRR)
NM_005732.4:c.*36T>A (RAD50) MANE Select	NP_005723.2:n.*36T>A