Canonical Allele Identifier: CA446364808

Gene: RAD50

Linked Data

• ClinVar Variation Id: 484713
• ClinVar RCV Id: RCV000574830
• dbSNP Id: rs1252792978
• gnomAD v2: 5-131953798-A-C
• gnomAD v4: 5-132618106-A-C
• MyVariant Identifiers: chr5:g.131953798A>C (hg19) ; chr5:g.132618106A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618106A>C , CM000667.2:g.132618106A>C	GRCh38
NC_000005.9:g.131953798A>C , CM000667.1:g.131953798A>C	GRCh37
NC_000005.8:g.131981697A>C	NCBI36
NG_021151.1:g.66183A>C
NG_021151.2:g.66130A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3201A>C MANE Select	ENSP00000368100.4:p.Ile1067=
ENST00000638452.2:c.2904A>C	ENSP00000492349.2:p.Ile968=
ENST00000638504.1:n.2809A>C
ENST00000638568.2:c.2904A>C	ENSP00000491158.2:p.Ile968=
ENST00000639899.1:n.3720A>C
ENST00000640655.2:c.2904A>C	ENSP00000491596.2:p.Ile968=
ENST00000651249.1:c.37A>C
ENST00000378823.7:c.3201A>C	ENSP00000368100.4:p.Ile1067=
ENST00000533482.5:c.*2827A>C	ENSP00000431225.1:n.*2827A>C
NM_005732.3:c.3201A>C	NP_005723.2:p.Ile1067=
NM_005732.4:c.3201A>C MANE Select	NP_005723.2:p.Ile1067=