Canonical Allele Identifier: CA360959448

Gene: RAD50

Linked Data

• ClinVar Variation Id: 656663
• ClinVar RCV Id: RCV000813135
• dbSNP Id: rs1581004613
• MyVariant Identifiers: chr5:g.131944827A>C (hg19) ; chr5:g.132609135A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609135A>C , CM000667.2:g.132609135A>C	GRCh38
NC_000005.9:g.131944827A>C , CM000667.1:g.131944827A>C	GRCh37
NC_000005.8:g.131972726A>C	NCBI36
NG_021151.1:g.57212A>C
NG_021151.2:g.57159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2848A>C MANE Select	ENSP00000368100.4:p.Lys950Gln
ENST00000638452.2:c.2551A>C	ENSP00000492349.2:p.Lys851Gln
ENST00000638504.1:n.2456A>C
ENST00000638568.2:c.2551A>C	ENSP00000491158.2:p.Lys851Gln
ENST00000639899.1:n.3367A>C
ENST00000640655.2:c.2551A>C	ENSP00000491596.2:p.Lys851Gln
ENST00000651160.1:c.*992A>C	ENSP00000498829.1:n.*992A>C
ENST00000651723.1:c.*2931A>C	ENSP00000498237.1:n.*2931A>C
ENST00000378823.7:c.2848A>C	ENSP00000368100.4:p.Lys950Gln
ENST00000423956.5:c.*1034A>C	ENSP00000390971.1:n.*1034A>C
ENST00000533482.5:c.*2474A>C	ENSP00000431225.1:n.*2474A>C
NM_005732.3:c.2848A>C	NP_005723.2:p.Lys950Gln
NM_005732.4:c.2848A>C MANE Select	NP_005723.2:p.Lys950Gln