Canonical Allele Identifier: CA127247045

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1005273
• ClinVar RCV Id: RCV001302120
• dbSNP Id: rs926372814
• MyVariant Identifiers: chr5:g.131927662G>A (hg19) ; chr5:g.132591970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591970G>A , CM000667.2:g.132591970G>A	GRCh38
NC_000005.9:g.131927662G>A , CM000667.1:g.131927662G>A	GRCh37
NC_000005.8:g.131955561G>A	NCBI36
NG_021151.1:g.40047G>A
NG_021151.2:g.39994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1729G>A MANE Select	ENSP00000368100.4:p.Glu577Lys
ENST00000638452.2:c.1432G>A	ENSP00000492349.2:p.Glu478Lys
ENST00000638504.1:n.1415G>A
ENST00000638568.2:c.1432G>A	ENSP00000491158.2:p.Glu478Lys
ENST00000639899.1:n.2248G>A
ENST00000640655.2:c.1432G>A	ENSP00000491596.2:p.Glu478Lys
ENST00000651160.1:c.1729G>A	ENSP00000498829.1:p.Glu577Lys
ENST00000651541.1:c.1432G>A	ENSP00000498795.1:p.Glu478Lys
ENST00000651658.1:n.2156G>A
ENST00000651723.1:c.*1812G>A	ENSP00000498237.1:n.*1812G>A
ENST00000652016.1:c.1729G>A	ENSP00000498267.1:p.Glu577Lys
ENST00000652485.1:c.1762G>A	ENSP00000498973.1:p.Glu588Lys
ENST00000378823.7:c.1729G>A	ENSP00000368100.4:p.Glu577Lys
ENST00000423956.5:c.1635+564G>A	ENSP00000390971.1:n.1635+564G>A
ENST00000434288.1:c.224G>A
ENST00000453394.5:c.1546G>A	ENSP00000400049.1:p.Glu516Lys
ENST00000533482.5:c.*1355G>A	ENSP00000431225.1:n.*1355G>A
NM_005732.3:c.1729G>A	NP_005723.2:p.Glu577Lys
NM_005732.4:c.1729G>A MANE Select	NP_005723.2:p.Glu577Lys