Canonical Allele Identifier: CA360956465

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1496119
• ClinVar RCV Id: RCV002028436
• dbSNP Id: rs1403966891
• MyVariant Identifiers: chr5:g.131940563A>G (hg19) ; chr5:g.132604871A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604871A>G , CM000667.2:g.132604871A>G	GRCh38
NC_000005.9:g.131940563A>G , CM000667.1:g.131940563A>G	GRCh37
NC_000005.8:g.131968462A>G	NCBI36
NG_021151.1:g.52948A>G
NG_021151.2:g.52895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2590A>G MANE Select	ENSP00000368100.4:p.Lys864Glu
ENST00000638452.2:c.2293A>G	ENSP00000492349.2:p.Lys765Glu
ENST00000638504.1:n.2198A>G
ENST00000638568.2:c.2293A>G	ENSP00000491158.2:p.Lys765Glu
ENST00000639899.1:n.3109A>G
ENST00000640655.2:c.2293A>G	ENSP00000491596.2:p.Lys765Glu
ENST00000651160.1:c.*734A>G	ENSP00000498829.1:n.*734A>G
ENST00000651723.1:c.*2673A>G	ENSP00000498237.1:n.*2673A>G
ENST00000652016.1:c.*807A>G	ENSP00000498267.1:n.*807A>G
ENST00000652485.1:c.2623A>G	ENSP00000498973.1:p.Lys875Glu
ENST00000378823.7:c.2590A>G	ENSP00000368100.4:p.Lys864Glu
ENST00000423956.5:c.*776A>G	ENSP00000390971.1:n.*776A>G
ENST00000533482.5:c.*2216A>G	ENSP00000431225.1:n.*2216A>G
NM_005732.3:c.2590A>G	NP_005723.2:p.Lys864Glu
NM_005732.4:c.2590A>G MANE Select	NP_005723.2:p.Lys864Glu