Canonical Allele Identifier: CA360960793

Gene: RAD50

Linked Data

• ClinVar Variation Id: 646854
• ClinVar RCV Id: RCV000801227
• dbSNP Id: rs1581004918
• MyVariant Identifiers: chr5:g.131945048A>C (hg19) ; chr5:g.132609356A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609356A>C , CM000667.2:g.132609356A>C	GRCh38
NC_000005.9:g.131945048A>C , CM000667.1:g.131945048A>C	GRCh37
NC_000005.8:g.131972947A>C	NCBI36
NG_021151.1:g.57433A>C
NG_021151.2:g.57380A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2996A>C MANE Select	ENSP00000368100.4:p.Glu999Ala
ENST00000638452.2:c.2699A>C	ENSP00000492349.2:p.Glu900Ala
ENST00000638504.1:n.2604A>C
ENST00000638568.2:c.2699A>C	ENSP00000491158.2:p.Glu900Ala
ENST00000639899.1:n.3515A>C
ENST00000640655.2:c.2699A>C	ENSP00000491596.2:p.Glu900Ala
ENST00000651723.1:c.*3079A>C	ENSP00000498237.1:n.*3079A>C
ENST00000378823.7:c.2996A>C	ENSP00000368100.4:p.Glu999Ala
ENST00000533482.5:c.*2622A>C	ENSP00000431225.1:n.*2622A>C
NM_005732.3:c.2996A>C	NP_005723.2:p.Glu999Ala
NM_005732.4:c.2996A>C MANE Select	NP_005723.2:p.Glu999Ala