Canonical Allele Identifier: CA360946498

Gene: RAD50

Linked Data

• ClinVar Variation Id: 484724
• ClinVar RCV Id: RCV000563781
• dbSNP Id: rs1554098481
• MyVariant Identifiers: chr5:g.131927651A>C (hg19) ; chr5:g.132591959A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591959A>C , CM000667.2:g.132591959A>C	GRCh38
NC_000005.9:g.131927651A>C , CM000667.1:g.131927651A>C	GRCh37
NC_000005.8:g.131955550A>C	NCBI36
NG_021151.1:g.40036A>C
NG_021151.2:g.39983A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1718A>C MANE Select	ENSP00000368100.4:p.Lys573Thr
ENST00000638452.2:c.1421A>C	ENSP00000492349.2:p.Lys474Thr
ENST00000638504.1:n.1404A>C
ENST00000638568.2:c.1421A>C	ENSP00000491158.2:p.Lys474Thr
ENST00000639899.1:n.2237A>C
ENST00000640655.2:c.1421A>C	ENSP00000491596.2:p.Lys474Thr
ENST00000651160.1:c.1718A>C	ENSP00000498829.1:p.Lys573Thr
ENST00000651541.1:c.1421A>C	ENSP00000498795.1:p.Lys474Thr
ENST00000651658.1:n.2145A>C
ENST00000651723.1:c.*1801A>C	ENSP00000498237.1:n.*1801A>C
ENST00000652016.1:c.1718A>C	ENSP00000498267.1:p.Lys573Thr
ENST00000652485.1:c.1751A>C	ENSP00000498973.1:p.Lys584Thr
ENST00000378823.7:c.1718A>C	ENSP00000368100.4:p.Lys573Thr
ENST00000423956.5:c.1635+553A>C	ENSP00000390971.1:n.1635+553A>C
ENST00000434288.1:c.213A>C
ENST00000453394.5:c.1535A>C	ENSP00000400049.1:p.Lys512Thr
ENST00000533482.5:c.*1344A>C	ENSP00000431225.1:n.*1344A>C
NM_005732.3:c.1718A>C	NP_005723.2:p.Lys573Thr
NM_005732.4:c.1718A>C MANE Select	NP_005723.2:p.Lys573Thr