Canonical Allele Identifier: CA446361540

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1160092
• ClinVar RCV Id: RCV001504036
• dbSNP Id: rs754054728
• COSMIC: COSM4851089
• MyVariant Identifiers: chr5:g.131893139A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557447A>G , CM000667.2:g.132557447A>G	GRCh38
NC_000005.9:g.131893139A>G , CM000667.1:g.131893139A>G	GRCh37
NC_000005.8:g.131921038A>G	NCBI36
NG_021151.1:g.5524A>G
NG_021151.2:g.5471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.123A>G MANE Select	ENSP00000368100.4:p.Gly41=
ENST00000638452.2:c.-168-1837A>G	ENSP00000492349.2:n.-168-1837A>G
ENST00000638504.1:n.207-1837A>G
ENST00000638568.2:c.-169+974A>G	ENSP00000491158.2:n.-169+974A>G
ENST00000639899.1:n.290-1837A>G
ENST00000640655.2:c.-168-1837A>G	ENSP00000491596.2:n.-168-1837A>G
ENST00000651160.1:c.123A>G	ENSP00000498829.1:p.Gly41=
ENST00000651541.1:c.-169+438A>G	ENSP00000498795.1:n.-169+438A>G
ENST00000651658.1:n.191A>G
ENST00000651723.1:c.123A>G	ENSP00000498237.1:p.Gly41=
ENST00000652016.1:c.123A>G	ENSP00000498267.1:p.Gly41=
ENST00000652485.1:c.123A>G	ENSP00000498973.1:p.Gly41=
ENST00000378823.7:c.123A>G	ENSP00000368100.4:p.Gly41=
ENST00000416135.5:c.-169+974A>G	ENSP00000389515.1:n.-169+974A>G
ENST00000423956.5:c.123A>G	ENSP00000390971.1:p.Gly41=
ENST00000453394.5:c.123A>G	ENSP00000400049.1:p.Gly41=
ENST00000533482.5:c.123A>G	ENSP00000431225.1:p.Gly41=
NM_005732.3:c.123A>G	NP_005723.2:p.Gly41=
NM_005732.4:c.123A>G MANE Select	NP_005723.2:p.Gly41=