Canonical Allele Identifier: CA446351066

Gene: RAD50

Linked Data

• ClinVar Variation Id: 760119
• ClinVar RCV Id: RCV000938030
• dbSNP Id: rs763038686
• MyVariant Identifiers: chr5:g.131911483A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575791A>G , CM000667.2:g.132575791A>G	GRCh38
NC_000005.9:g.131911483A>G , CM000667.1:g.131911483A>G	GRCh37
NC_000005.8:g.131939382A>G	NCBI36
NG_021151.1:g.23868A>G
NG_021151.2:g.23815A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.228A>G MANE Select	ENSP00000368100.4:p.Thr76=
ENST00000638452.2:c.-70A>G	ENSP00000492349.2:n.-70A>G
ENST00000638504.1:n.305A>G
ENST00000638568.2:c.-70A>G	ENSP00000491158.2:n.-70A>G
ENST00000639899.1:n.388A>G
ENST00000640655.2:c.-70A>G	ENSP00000491596.2:n.-70A>G
ENST00000651160.1:c.228A>G	ENSP00000498829.1:p.Thr76=
ENST00000651541.1:c.-70A>G	ENSP00000498795.1:n.-70A>G
ENST00000651658.1:n.296A>G
ENST00000651723.1:c.*376A>G	ENSP00000498237.1:n.*376A>G
ENST00000652016.1:c.228A>G	ENSP00000498267.1:p.Thr76=
ENST00000652485.1:c.228A>G	ENSP00000498973.1:p.Thr76=
ENST00000378823.7:c.228A>G	ENSP00000368100.4:p.Thr76=
ENST00000416135.5:c.-70A>G	ENSP00000389515.1:n.-70A>G
ENST00000423956.5:c.228A>G	ENSP00000390971.1:p.Thr76=
ENST00000453394.5:c.228A>G	ENSP00000400049.1:p.Thr76=
ENST00000533482.5:c.228A>G	ENSP00000431225.1:p.Thr76=
NM_005732.3:c.228A>G	NP_005723.2:p.Thr76=
NM_005732.4:c.228A>G MANE Select	NP_005723.2:p.Thr76=