Canonical Allele Identifier: CA562772516

Gene: RAD50

Linked Data

• dbSNP Id: rs36229533
• gnomAD v2: 5-131892670-C-G
• gnomAD v3: 5-132556978-C-G
• gnomAD v4: 5-132556978-C-G
• MyVariant Identifiers: chr5:g.131892670C>G (hg19) ; chr5:g.132556978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556978C>G , CM000667.2:g.132556978C>G	GRCh38
NC_000005.9:g.131892670C>G , CM000667.1:g.131892670C>G	GRCh37
NC_000005.8:g.131920569C>G	NCBI36
NG_021151.1:g.5055C>G
NG_021151.2:g.5002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-347C>G MANE Select	ENSP00000368100.4:n.-347C>G
ENST00000638452.2:c.-168-2306C>G	ENSP00000492349.2:n.-168-2306C>G
ENST00000638504.1:n.207-2306C>G
ENST00000638568.2:c.-169+505C>G	ENSP00000491158.2:n.-169+505C>G
ENST00000639899.1:n.290-2306C>G
ENST00000640655.2:c.-168-2306C>G	ENSP00000491596.2:n.-168-2306C>G
ENST00000651541.1:c.-200C>G	ENSP00000498795.1:n.-200C>G
ENST00000378823.7:c.-347C>G	ENSP00000368100.4:n.-347C>G
ENST00000416135.5:c.-169+505C>G	ENSP00000389515.1:n.-169+505C>G
ENST00000533482.5:c.-347C>G	ENSP00000431225.1:n.-347C>G
NM_005732.3:c.-347C>G	NP_005723.2:n.-347C>G
NM_005732.4:c.-347C>G MANE Select	NP_005723.2:n.-347C>G