Canonical Allele Identifier: CA360964724

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953887T>A (hg19) ; chr5:g.132618195T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618195T>A , CM000667.2:g.132618195T>A	GRCh38
NC_000005.9:g.131953887T>A , CM000667.1:g.131953887T>A	GRCh37
NC_000005.8:g.131981786T>A	NCBI36
NG_021151.1:g.66272T>A
NG_021151.2:g.66219T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3290T>A MANE Select	ENSP00000368100.4:p.Phe1097Tyr
ENST00000638452.2:c.2993T>A	ENSP00000492349.2:p.Phe998Tyr
ENST00000638504.1:n.2898T>A
ENST00000638568.2:c.2993T>A	ENSP00000491158.2:p.Phe998Tyr
ENST00000639899.1:n.3809T>A
ENST00000640655.2:c.2993T>A	ENSP00000491596.2:p.Phe998Tyr
ENST00000651249.1:c.126T>A
ENST00000378823.7:c.3290T>A	ENSP00000368100.4:p.Phe1097Tyr
ENST00000533482.5:c.*2916T>A	ENSP00000431225.1:n.*2916T>A
NM_005732.3:c.3290T>A	NP_005723.2:p.Phe1097Tyr
NM_005732.4:c.3290T>A MANE Select	NP_005723.2:p.Phe1097Tyr