Canonical Allele Identifier: CA360955815

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939713A>C (hg19) ; chr5:g.132604021A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604021A>C , CM000667.2:g.132604021A>C	GRCh38
NC_000005.9:g.131939713A>C , CM000667.1:g.131939713A>C	GRCh37
NC_000005.8:g.131967612A>C	NCBI36
NG_021151.1:g.52098A>C
NG_021151.2:g.52045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2499A>C MANE Select	ENSP00000368100.4:p.Gln833His
ENST00000638452.2:c.2202A>C	ENSP00000492349.2:p.Gln734His
ENST00000638504.1:n.2107A>C
ENST00000638568.2:c.2202A>C	ENSP00000491158.2:p.Gln734His
ENST00000639899.1:n.3018A>C
ENST00000640655.2:c.2202A>C	ENSP00000491596.2:p.Gln734His
ENST00000651160.1:c.*643A>C	ENSP00000498829.1:n.*643A>C
ENST00000651658.1:n.3042A>C
ENST00000651723.1:c.*2582A>C	ENSP00000498237.1:n.*2582A>C
ENST00000652016.1:c.*716A>C	ENSP00000498267.1:n.*716A>C
ENST00000652485.1:c.2532A>C	ENSP00000498973.1:p.Gln844His
ENST00000378823.7:c.2499A>C	ENSP00000368100.4:p.Gln833His
ENST00000423956.5:c.*685A>C	ENSP00000390971.1:n.*685A>C
ENST00000533482.5:c.*2125A>C	ENSP00000431225.1:n.*2125A>C
NM_005732.3:c.2499A>C	NP_005723.2:p.Gln833His
NM_005732.4:c.2499A>C MANE Select	NP_005723.2:p.Gln833His