Canonical Allele Identifier: CA1081660098

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs1751532796
• gnomAD v3: 5-132634314-G-A
• gnomAD v4: 5-132634314-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132634314G>A , CM000667.2:g.132634314G>A	GRCh38
NC_000005.9:g.131970006G>A , CM000667.1:g.131970006G>A	GRCh37
NC_000005.8:g.131997905G>A	NCBI36
NG_021151.1:g.82391G>A
NG_021151.2:g.82338G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3390-2801G>A (RAD50) MANE Select	ENSP00000368100.4:n.3390-2801G>A
ENST00000638452.2:c.3093-2801G>A	ENSP00000492349.2:n.3093-2801G>A
ENST00000638504.1:n.2998-2801G>A
ENST00000638568.2:c.3093-2801G>A	ENSP00000491158.2:n.3093-2801G>A
ENST00000639899.1:n.3909-2801G>A
ENST00000640655.2:c.3093-2801G>A	ENSP00000491596.2:n.3093-2801G>A
ENST00000651249.1:c.226-2801G>A (RAD50)
ENST00000378823.7:c.3390-2801G>A (RAD50)	ENSP00000368100.4:n.3390-2801G>A
ENST00000455677.1:c.25-2801G>A (RAD50)
ENST00000533482.5:c.*3016-2801G>A (RAD50)	ENSP00000431225.1:n.*3016-2801G>A
NM_005732.3:c.3390-2801G>A (RAD50)	NP_005723.2:n.3390-2801G>A
NR_132124.1:n.154-3423C>T (TH2LCRR)
NM_005732.4:c.3390-2801G>A (RAD50) MANE Select	NP_005723.2:n.3390-2801G>A