Canonical Allele Identifier: CA3405440

Gene: RAD50

Linked Data

• dbSNP Id: rs773048127
• ExAC: 5:131940664 A / G
• gnomAD v2: 5-131940664-A-G
• gnomAD v4: 5-132604972-A-G
• MyVariant Identifiers: chr5:g.131940664A>G (hg19) ; chr5:g.132604972A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604972A>G , CM000667.2:g.132604972A>G	GRCh38
NC_000005.9:g.131940664A>G , CM000667.1:g.131940664A>G	GRCh37
NC_000005.8:g.131968563A>G	NCBI36
NG_021151.1:g.53049A>G
NG_021151.2:g.52996A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2691A>G MANE Select	ENSP00000368100.4:p.Glu897=
ENST00000638452.2:c.2394A>G	ENSP00000492349.2:p.Glu798=
ENST00000638504.1:n.2299A>G
ENST00000638568.2:c.2394A>G	ENSP00000491158.2:p.Glu798=
ENST00000639899.1:n.3210A>G
ENST00000640655.2:c.2394A>G	ENSP00000491596.2:p.Glu798=
ENST00000651160.1:c.*835A>G	ENSP00000498829.1:n.*835A>G
ENST00000651723.1:c.*2774A>G	ENSP00000498237.1:n.*2774A>G
ENST00000652016.1:c.*908A>G	ENSP00000498267.1:n.*908A>G
ENST00000378823.7:c.2691A>G	ENSP00000368100.4:p.Glu897=
ENST00000423956.5:c.*877A>G	ENSP00000390971.1:n.*877A>G
ENST00000533482.5:c.*2317A>G	ENSP00000431225.1:n.*2317A>G
NM_005732.3:c.2691A>G	NP_005723.2:p.Glu897=
NM_005732.4:c.2691A>G MANE Select	NP_005723.2:p.Glu897=