Canonical Allele Identifier: CA360964166

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953764A>C (hg19) ; chr5:g.132618072A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618072A>C , CM000667.2:g.132618072A>C	GRCh38
NC_000005.9:g.131953764A>C , CM000667.1:g.131953764A>C	GRCh37
NC_000005.8:g.131981663A>C	NCBI36
NG_021151.1:g.66149A>C
NG_021151.2:g.66096A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3167A>C MANE Select	ENSP00000368100.4:p.Glu1056Ala
ENST00000638452.2:c.2870A>C	ENSP00000492349.2:p.Glu957Ala
ENST00000638504.1:n.2775A>C
ENST00000638568.2:c.2870A>C	ENSP00000491158.2:p.Glu957Ala
ENST00000639899.1:n.3686A>C
ENST00000640655.2:c.2870A>C	ENSP00000491596.2:p.Glu957Ala
ENST00000651249.1:c.3A>C
ENST00000378823.7:c.3167A>C	ENSP00000368100.4:p.Glu1056Ala
ENST00000533482.5:c.*2793A>C	ENSP00000431225.1:n.*2793A>C
NM_005732.3:c.3167A>C	NP_005723.2:p.Glu1056Ala
NM_005732.4:c.3167A>C MANE Select	NP_005723.2:p.Glu1056Ala