Canonical Allele Identifier: CA446354940

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1734390
• ClinVar RCV Id: RCV002353054
• gnomAD v4: 5-132579323-T-G
• MyVariant Identifiers: chr5:g.131915015T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579323T>G , CM000667.2:g.132579323T>G	GRCh38
NC_000005.9:g.131915015T>G , CM000667.1:g.131915015T>G	GRCh37
NC_000005.8:g.131942914T>G	NCBI36
NG_021151.1:g.27400T>G
NG_021151.2:g.27347T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.372T>G MANE Select	ENSP00000368100.4:p.Gly124=
ENST00000638452.2:c.75T>G	ENSP00000492349.2:p.Gly25=
ENST00000638504.1:n.442+3395T>G
ENST00000638568.2:c.75T>G	ENSP00000491158.2:p.Gly25=
ENST00000639899.1:n.532T>G
ENST00000640655.2:c.75T>G	ENSP00000491596.2:p.Gly25=
ENST00000651160.1:c.372T>G	ENSP00000498829.1:p.Gly124=
ENST00000651541.1:c.75T>G	ENSP00000498795.1:p.Gly25=
ENST00000651658.1:n.440T>G
ENST00000651723.1:c.*455T>G	ENSP00000498237.1:n.*455T>G
ENST00000652016.1:c.372T>G	ENSP00000498267.1:p.Gly124=
ENST00000652485.1:c.372T>G	ENSP00000498973.1:p.Gly124=
ENST00000378823.7:c.372T>G	ENSP00000368100.4:p.Gly124=
ENST00000416135.5:c.75T>G	ENSP00000389515.1:p.Gly25=
ENST00000423956.5:c.372T>G	ENSP00000390971.1:p.Gly124=
ENST00000453394.5:c.372T>G	ENSP00000400049.1:p.Gly124=
ENST00000533482.5:c.307T>G	ENSP00000431225.1:p.Ter103Gly
NM_005732.3:c.372T>G	NP_005723.2:p.Gly124=
NM_005732.4:c.372T>G MANE Select	NP_005723.2:p.Gly124=