Canonical Allele Identifier: CA360959938

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944881G>C (hg19) ; chr5:g.132609189G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609189G>C , CM000667.2:g.132609189G>C	GRCh38
NC_000005.9:g.131944881G>C , CM000667.1:g.131944881G>C	GRCh37
NC_000005.8:g.131972780G>C	NCBI36
NG_021151.1:g.57266G>C
NG_021151.2:g.57213G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2902G>C MANE Select	ENSP00000368100.4:p.Gly968Arg
ENST00000638452.2:c.2605G>C	ENSP00000492349.2:p.Gly869Arg
ENST00000638504.1:n.2510G>C
ENST00000638568.2:c.2605G>C	ENSP00000491158.2:p.Gly869Arg
ENST00000639899.1:n.3421G>C
ENST00000640655.2:c.2605G>C	ENSP00000491596.2:p.Gly869Arg
ENST00000651160.1:c.*1046G>C	ENSP00000498829.1:n.*1046G>C
ENST00000651723.1:c.*2985G>C	ENSP00000498237.1:n.*2985G>C
ENST00000378823.7:c.2902G>C	ENSP00000368100.4:p.Gly968Arg
ENST00000423956.5:c.*1088G>C	ENSP00000390971.1:n.*1088G>C
ENST00000533482.5:c.*2528G>C	ENSP00000431225.1:n.*2528G>C
NM_005732.3:c.2902G>C	NP_005723.2:p.Gly968Arg
NM_005732.4:c.2902G>C MANE Select	NP_005723.2:p.Gly968Arg