Canonical Allele Identifier: CA360959500

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944833A>C (hg19) ; chr5:g.132609141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609141A>C , CM000667.2:g.132609141A>C	GRCh38
NC_000005.9:g.131944833A>C , CM000667.1:g.131944833A>C	GRCh37
NC_000005.8:g.131972732A>C	NCBI36
NG_021151.1:g.57218A>C
NG_021151.2:g.57165A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2854A>C MANE Select	ENSP00000368100.4:p.Lys952Gln
ENST00000638452.2:c.2557A>C	ENSP00000492349.2:p.Lys853Gln
ENST00000638504.1:n.2462A>C
ENST00000638568.2:c.2557A>C	ENSP00000491158.2:p.Lys853Gln
ENST00000639899.1:n.3373A>C
ENST00000640655.2:c.2557A>C	ENSP00000491596.2:p.Lys853Gln
ENST00000651160.1:c.*998A>C	ENSP00000498829.1:n.*998A>C
ENST00000651723.1:c.*2937A>C	ENSP00000498237.1:n.*2937A>C
ENST00000378823.7:c.2854A>C	ENSP00000368100.4:p.Lys952Gln
ENST00000423956.5:c.*1040A>C	ENSP00000390971.1:n.*1040A>C
ENST00000533482.5:c.*2480A>C	ENSP00000431225.1:n.*2480A>C
NM_005732.3:c.2854A>C	NP_005723.2:p.Lys952Gln
NM_005732.4:c.2854A>C MANE Select	NP_005723.2:p.Lys952Gln