Canonical Allele Identifier: CA3405003

Gene: RAD50

Linked Data

• ClinVar Variation Id: 641264
• ClinVar RCV Id: RCV000794466
• dbSNP Id: rs775200998
• ExAC: 5:131915597 C / G
• gnomAD v2: 5-131915597-C-G
• gnomAD v4: 5-132579905-C-G
• MyVariant Identifiers: chr5:g.131915597C>G (hg19) ; chr5:g.132579905C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579905C>G , CM000667.2:g.132579905C>G	GRCh38
NC_000005.9:g.131915597C>G , CM000667.1:g.131915597C>G	GRCh37
NC_000005.8:g.131943496C>G	NCBI36
NG_021151.1:g.27982C>G
NG_021151.2:g.27929C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.595C>G MANE Select	ENSP00000368100.4:p.Gln199Glu
ENST00000638452.2:c.298C>G	ENSP00000492349.2:p.Gln100Glu
ENST00000638504.1:n.442+3977C>G
ENST00000638568.2:c.298C>G	ENSP00000491158.2:p.Gln100Glu
ENST00000639899.1:n.1114C>G
ENST00000640655.2:c.298C>G	ENSP00000491596.2:p.Gln100Glu
ENST00000651160.1:c.595C>G	ENSP00000498829.1:p.Gln199Glu
ENST00000651541.1:c.298C>G	ENSP00000498795.1:p.Gln100Glu
ENST00000651658.1:n.1022C>G
ENST00000651723.1:c.*678C>G	ENSP00000498237.1:n.*678C>G
ENST00000652016.1:c.595C>G	ENSP00000498267.1:p.Gln199Glu
ENST00000652485.1:c.595C>G	ENSP00000498973.1:p.Gln199Glu
ENST00000378823.7:c.595C>G	ENSP00000368100.4:p.Gln199Glu
ENST00000416135.5:c.298C>G	ENSP00000389515.1:p.Gln100Glu
ENST00000423956.5:c.595C>G	ENSP00000390971.1:p.Gln199Glu
ENST00000453394.5:c.595C>G	ENSP00000400049.1:p.Gln199Glu
ENST00000487596.1:n.161C>G
ENST00000533482.5:c.*221C>G	ENSP00000431225.1:n.*221C>G
NM_005732.3:c.595C>G	NP_005723.2:p.Gln199Glu
NM_005732.4:c.595C>G MANE Select	NP_005723.2:p.Gln199Glu