Canonical Allele Identifier: CA1139659054

Gene: RAD50

Linked Data

• ClinVar Variation Id: 970592
• ClinVar RCV Id: RCV001246187
• dbSNP Id: rs1750390427

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575932G>A , CM000667.2:g.132575932G>A	GRCh38
NC_000005.9:g.131911624G>A , CM000667.1:g.131911624G>A	GRCh37
NC_000005.8:g.131939523G>A	NCBI36
NG_021151.1:g.24009G>A
NG_021151.2:g.23956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.365+4G>A MANE Select	ENSP00000368100.4:n.365+4G>A
ENST00000638452.2:c.68+4G>A	ENSP00000492349.2:n.68+4G>A
ENST00000638504.1:n.442+4G>A
ENST00000638568.2:c.68+4G>A	ENSP00000491158.2:n.68+4G>A
ENST00000639899.1:n.525+4G>A
ENST00000640655.2:c.68+4G>A	ENSP00000491596.2:n.68+4G>A
ENST00000651160.1:c.365+4G>A	ENSP00000498829.1:n.365+4G>A
ENST00000651541.1:c.68+4G>A	ENSP00000498795.1:n.68+4G>A
ENST00000651658.1:n.433+4G>A
ENST00000651723.1:c.*448+69G>A	ENSP00000498237.1:n.*448+69G>A
ENST00000652016.1:c.365+4G>A	ENSP00000498267.1:n.365+4G>A
ENST00000652485.1:c.365+4G>A	ENSP00000498973.1:n.365+4G>A
ENST00000378823.7:c.365+4G>A	ENSP00000368100.4:n.365+4G>A
ENST00000416135.5:c.68+4G>A	ENSP00000389515.1:n.68+4G>A
ENST00000423956.5:c.365+4G>A	ENSP00000390971.1:n.365+4G>A
ENST00000453394.5:c.365+4G>A	ENSP00000400049.1:n.365+4G>A
ENST00000533482.5:c.300+69G>A	ENSP00000431225.1:n.300+69G>A
NM_005732.3:c.365+4G>A	NP_005723.2:n.365+4G>A
NM_005732.4:c.365+4G>A MANE Select	NP_005723.2:n.365+4G>A