Canonical Allele Identifier: CA446362156

Gene: RAD50

Linked Data

• ClinVar Variation Id: 820318
• ClinVar RCV Id: RCV001013649
• dbSNP Id: rs1180678191
• MyVariant Identifiers: chr5:g.131930675G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594983G>A , CM000667.2:g.132594983G>A	GRCh38
NC_000005.9:g.131930675G>A , CM000667.1:g.131930675G>A	GRCh37
NC_000005.8:g.131958574G>A	NCBI36
NG_021151.1:g.43060G>A
NG_021151.2:g.43007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1908G>A MANE Select	ENSP00000368100.4:p.Gln636=
ENST00000638452.2:c.1611G>A	ENSP00000492349.2:p.Gln537=
ENST00000638504.1:n.1480-121G>A
ENST00000638568.2:c.1611G>A	ENSP00000491158.2:p.Gln537=
ENST00000639899.1:n.2427G>A
ENST00000640655.2:c.1611G>A	ENSP00000491596.2:p.Gln537=
ENST00000651160.1:c.*16-121G>A	ENSP00000498829.1:n.*16-121G>A
ENST00000651658.1:n.2451G>A
ENST00000651723.1:c.*1991G>A	ENSP00000498237.1:n.*1991G>A
ENST00000652016.1:c.*89-121G>A	ENSP00000498267.1:n.*89-121G>A
ENST00000652485.1:c.1941G>A	ENSP00000498973.1:p.Gln647=
ENST00000378823.7:c.1908G>A	ENSP00000368100.4:p.Gln636=
ENST00000423956.5:c.*94G>A	ENSP00000390971.1:n.*94G>A
ENST00000453394.5:c.1725G>A	ENSP00000400049.1:p.Gln575=
ENST00000533482.5:c.*1534G>A	ENSP00000431225.1:n.*1534G>A
NM_005732.3:c.1908G>A	NP_005723.2:p.Gln636=
NM_005732.4:c.1908G>A MANE Select	NP_005723.2:p.Gln636=