Canonical Allele Identifier: CA446361429

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1650814
• ClinVar RCV Id: RCV002149207
• dbSNP Id: rs2149830059
• MyVariant Identifiers: chr5:g.131893025G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557333G>A , CM000667.2:g.132557333G>A	GRCh38
NC_000005.9:g.131893025G>A , CM000667.1:g.131893025G>A	GRCh37
NC_000005.8:g.131920924G>A	NCBI36
NG_021151.1:g.5410G>A
NG_021151.2:g.5357G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.9G>A MANE Select	ENSP00000368100.4:p.Arg3=
ENST00000638452.2:c.-168-1951G>A	ENSP00000492349.2:n.-168-1951G>A
ENST00000638504.1:n.207-1951G>A
ENST00000638568.2:c.-169+860G>A	ENSP00000491158.2:n.-169+860G>A
ENST00000639899.1:n.290-1951G>A
ENST00000640655.2:c.-168-1951G>A	ENSP00000491596.2:n.-168-1951G>A
ENST00000651160.1:c.9G>A	ENSP00000498829.1:p.Arg3=
ENST00000651541.1:c.-169+324G>A	ENSP00000498795.1:n.-169+324G>A
ENST00000651658.1:n.77G>A
ENST00000651723.1:c.9G>A	ENSP00000498237.1:p.Arg3=
ENST00000652016.1:c.9G>A	ENSP00000498267.1:p.Arg3=
ENST00000652485.1:c.9G>A	ENSP00000498973.1:p.Arg3=
ENST00000378823.7:c.9G>A	ENSP00000368100.4:p.Arg3=
ENST00000416135.5:c.-169+860G>A	ENSP00000389515.1:n.-169+860G>A
ENST00000423956.5:c.9G>A	ENSP00000390971.1:p.Arg3=
ENST00000453394.5:c.9G>A	ENSP00000400049.1:p.Arg3=
ENST00000533482.5:c.9G>A	ENSP00000431225.1:p.Arg3=
NM_005732.3:c.9G>A	NP_005723.2:p.Arg3=
NM_005732.4:c.9G>A MANE Select	NP_005723.2:p.Arg3=