Canonical Allele Identifier: CA360942553

Gene: RAD50

Linked Data

• dbSNP Id: rs786202509
• gnomAD v4: 5-132588767-C-G
• MyVariant Identifiers: chr5:g.131924459C>G (hg19) ; chr5:g.132588767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588767C>G , CM000667.2:g.132588767C>G	GRCh38
NC_000005.9:g.131924459C>G , CM000667.1:g.131924459C>G	GRCh37
NC_000005.8:g.131952358C>G	NCBI36
NG_021151.1:g.36844C>G
NG_021151.2:g.36791C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1132C>G MANE Select	ENSP00000368100.4:p.Leu378Val
ENST00000638452.2:c.835C>G	ENSP00000492349.2:p.Leu279Val
ENST00000638504.1:n.818C>G
ENST00000638568.2:c.835C>G	ENSP00000491158.2:p.Leu279Val
ENST00000639899.1:n.1651C>G
ENST00000640655.2:c.835C>G	ENSP00000491596.2:p.Leu279Val
ENST00000651160.1:c.1132C>G	ENSP00000498829.1:p.Leu378Val
ENST00000651541.1:c.835C>G	ENSP00000498795.1:p.Leu279Val
ENST00000651658.1:n.1559C>G
ENST00000651723.1:c.*1215C>G	ENSP00000498237.1:n.*1215C>G
ENST00000652016.1:c.1132C>G	ENSP00000498267.1:p.Leu378Val
ENST00000652485.1:c.1132C>G	ENSP00000498973.1:p.Leu378Val
ENST00000378823.7:c.1132C>G	ENSP00000368100.4:p.Leu378Val
ENST00000423956.5:c.1132C>G	ENSP00000390971.1:p.Leu378Val
ENST00000453394.5:c.1132C>G	ENSP00000400049.1:p.Leu378Val
ENST00000487596.1:n.698C>G
ENST00000533482.5:c.*758C>G	ENSP00000431225.1:n.*758C>G
NM_005732.3:c.1132C>G	NP_005723.2:p.Leu378Val
NM_005732.4:c.1132C>G MANE Select	NP_005723.2:p.Leu378Val