Canonical Allele Identifier: CA360956532

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940578G>C (hg19) ; chr5:g.132604886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604886G>C , CM000667.2:g.132604886G>C	GRCh38
NC_000005.9:g.131940578G>C , CM000667.1:g.131940578G>C	GRCh37
NC_000005.8:g.131968477G>C	NCBI36
NG_021151.1:g.52963G>C
NG_021151.2:g.52910G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2605G>C MANE Select	ENSP00000368100.4:p.Glu869Gln
ENST00000638452.2:c.2308G>C	ENSP00000492349.2:p.Glu770Gln
ENST00000638504.1:n.2213G>C
ENST00000638568.2:c.2308G>C	ENSP00000491158.2:p.Glu770Gln
ENST00000639899.1:n.3124G>C
ENST00000640655.2:c.2308G>C	ENSP00000491596.2:p.Glu770Gln
ENST00000651160.1:c.*749G>C	ENSP00000498829.1:n.*749G>C
ENST00000651723.1:c.*2688G>C	ENSP00000498237.1:n.*2688G>C
ENST00000652016.1:c.*822G>C	ENSP00000498267.1:n.*822G>C
ENST00000652485.1:c.2638G>C	ENSP00000498973.1:p.Glu880Gln
ENST00000378823.7:c.2605G>C	ENSP00000368100.4:p.Glu869Gln
ENST00000423956.5:c.*791G>C	ENSP00000390971.1:n.*791G>C
ENST00000533482.5:c.*2231G>C	ENSP00000431225.1:n.*2231G>C
NM_005732.3:c.2605G>C	NP_005723.2:p.Glu869Gln
NM_005732.4:c.2605G>C MANE Select	NP_005723.2:p.Glu869Gln