Canonical Allele Identifier: CA16611956

Gene: RAD50

Linked Data

• ClinVar Variation Id: 414930
• ClinVar RCV Id: RCV001410344
• dbSNP Id: rs745374544
• MyVariant Identifiers: chr5:g.131925346T>G (hg19) ; chr5:g.132589654T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589654T>G , CM000667.2:g.132589654T>G	GRCh38
NC_000005.9:g.131925346T>G , CM000667.1:g.131925346T>G	GRCh37
NC_000005.8:g.131953245T>G	NCBI36
NG_021151.1:g.37731T>G
NG_021151.2:g.37678T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1269T>G MANE Select	ENSP00000368100.4:p.Thr423=
ENST00000638452.2:c.972T>G	ENSP00000492349.2:p.Thr324=
ENST00000638504.1:n.955T>G
ENST00000638568.2:c.972T>G	ENSP00000491158.2:p.Thr324=
ENST00000639899.1:n.1788T>G
ENST00000640655.2:c.972T>G	ENSP00000491596.2:p.Thr324=
ENST00000651160.1:c.1269T>G	ENSP00000498829.1:p.Thr423=
ENST00000651541.1:c.972T>G	ENSP00000498795.1:p.Thr324=
ENST00000651658.1:n.1696T>G
ENST00000651723.1:c.*1352T>G	ENSP00000498237.1:n.*1352T>G
ENST00000652016.1:c.1269T>G	ENSP00000498267.1:p.Thr423=
ENST00000652485.1:c.1269T>G	ENSP00000498973.1:p.Thr423=
ENST00000378823.7:c.1269T>G	ENSP00000368100.4:p.Thr423=
ENST00000423956.5:c.1269T>G	ENSP00000390971.1:p.Thr423=
ENST00000453394.5:c.1269T>G	ENSP00000400049.1:p.Thr423=
ENST00000533482.5:c.*895T>G	ENSP00000431225.1:n.*895T>G
NM_005732.3:c.1269T>G	NP_005723.2:p.Thr423=
NM_005732.4:c.1269T>G MANE Select	NP_005723.2:p.Thr423=