Canonical Allele Identifier: CA360956626

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940600A>C (hg19) ; chr5:g.132604908A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604908A>C , CM000667.2:g.132604908A>C	GRCh38
NC_000005.9:g.131940600A>C , CM000667.1:g.131940600A>C	GRCh37
NC_000005.8:g.131968499A>C	NCBI36
NG_021151.1:g.52985A>C
NG_021151.2:g.52932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2627A>C MANE Select	ENSP00000368100.4:p.Gln876Pro
ENST00000638452.2:c.2330A>C	ENSP00000492349.2:p.Gln777Pro
ENST00000638504.1:n.2235A>C
ENST00000638568.2:c.2330A>C	ENSP00000491158.2:p.Gln777Pro
ENST00000639899.1:n.3146A>C
ENST00000640655.2:c.2330A>C	ENSP00000491596.2:p.Gln777Pro
ENST00000651160.1:c.*771A>C	ENSP00000498829.1:n.*771A>C
ENST00000651723.1:c.*2710A>C	ENSP00000498237.1:n.*2710A>C
ENST00000652016.1:c.*844A>C	ENSP00000498267.1:n.*844A>C
ENST00000652485.1:c.2660A>C	ENSP00000498973.1:p.Gln887Pro
ENST00000378823.7:c.2627A>C	ENSP00000368100.4:p.Gln876Pro
ENST00000423956.5:c.*813A>C	ENSP00000390971.1:n.*813A>C
ENST00000533482.5:c.*2253A>C	ENSP00000431225.1:n.*2253A>C
NM_005732.3:c.2627A>C	NP_005723.2:p.Gln876Pro
NM_005732.4:c.2627A>C MANE Select	NP_005723.2:p.Gln876Pro