Canonical Allele Identifier: CA446362176

Gene: RAD50

Linked Data

• ClinVar Variation Id: 527398
• ClinVar RCV Id: RCV000632257
• dbSNP Id: rs1554098607
• MyVariant Identifiers: chr5:g.131930726A>C (hg19) ; chr5:g.132595034A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595034A>C , CM000667.2:g.132595034A>C	GRCh38
NC_000005.9:g.131930726A>C , CM000667.1:g.131930726A>C	GRCh37
NC_000005.8:g.131958625A>C	NCBI36
NG_021151.1:g.43111A>C
NG_021151.2:g.43058A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1959A>C MANE Select	ENSP00000368100.4:p.Ser653=
ENST00000638452.2:c.1662A>C	ENSP00000492349.2:p.Ser554=
ENST00000638504.1:n.1480-70A>C
ENST00000638568.2:c.1662A>C	ENSP00000491158.2:p.Ser554=
ENST00000639899.1:n.2478A>C
ENST00000640655.2:c.1662A>C	ENSP00000491596.2:p.Ser554=
ENST00000651160.1:c.*16-70A>C	ENSP00000498829.1:n.*16-70A>C
ENST00000651658.1:n.2502A>C
ENST00000651723.1:c.*2042A>C	ENSP00000498237.1:n.*2042A>C
ENST00000652016.1:c.*89-70A>C	ENSP00000498267.1:n.*89-70A>C
ENST00000652485.1:c.1992A>C	ENSP00000498973.1:p.Ser664=
ENST00000378823.7:c.1959A>C	ENSP00000368100.4:p.Ser653=
ENST00000423956.5:c.*145A>C	ENSP00000390971.1:n.*145A>C
ENST00000453394.5:c.1776A>C	ENSP00000400049.1:p.Ser592=
ENST00000533482.5:c.*1585A>C	ENSP00000431225.1:n.*1585A>C
NM_005732.3:c.1959A>C	NP_005723.2:p.Ser653=
NM_005732.4:c.1959A>C MANE Select	NP_005723.2:p.Ser653=