Canonical Allele Identifier: CA1583233420

Gene: RAD50

Linked Data

• dbSNP Id: rs1751206240
• gnomAD v4: 5-132618004-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618004A>G , CM000667.2:g.132618004A>G	GRCh38
NC_000005.9:g.131953696A>G , CM000667.1:g.131953696A>G	GRCh37
NC_000005.8:g.131981595A>G	NCBI36
NG_021151.1:g.66081A>G
NG_021151.2:g.66028A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3165-66A>G MANE Select	ENSP00000368100.4:n.3165-66A>G
ENST00000638452.2:c.2868-66A>G	ENSP00000492349.2:n.2868-66A>G
ENST00000638504.1:n.2773-66A>G
ENST00000638568.2:c.2868-66A>G	ENSP00000491158.2:n.2868-66A>G
ENST00000639899.1:n.3684-66A>G
ENST00000640655.2:c.2868-66A>G	ENSP00000491596.2:n.2868-66A>G
ENST00000378823.7:c.3165-66A>G	ENSP00000368100.4:n.3165-66A>G
ENST00000533482.5:c.*2791-66A>G	ENSP00000431225.1:n.*2791-66A>G
NM_005732.3:c.3165-66A>G	NP_005723.2:n.3165-66A>G
NM_005732.4:c.3165-66A>G MANE Select	NP_005723.2:n.3165-66A>G