Canonical Allele Identifier: CA3405224

Gene: RAD50

Linked Data

• dbSNP Id: rs772241495
• ExAC: 5:131927563 C / A
• gnomAD v2: 5-131927563-C-A
• gnomAD v4: 5-132591871-C-A
• MyVariant Identifiers: chr5:g.131927563C>A (hg19) ; chr5:g.132591871C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591871C>A , CM000667.2:g.132591871C>A	GRCh38
NC_000005.9:g.131927563C>A , CM000667.1:g.131927563C>A	GRCh37
NC_000005.8:g.131955462C>A	NCBI36
NG_021151.1:g.39948C>A
NG_021151.2:g.39895C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1636-6C>A MANE Select	ENSP00000368100.4:n.1636-6C>A
ENST00000638452.2:c.1339-6C>A	ENSP00000492349.2:n.1339-6C>A
ENST00000638504.1:n.1322-6C>A
ENST00000638568.2:c.1339-6C>A	ENSP00000491158.2:n.1339-6C>A
ENST00000639899.1:n.2155-6C>A
ENST00000640655.2:c.1339-6C>A	ENSP00000491596.2:n.1339-6C>A
ENST00000651160.1:c.1636-6C>A	ENSP00000498829.1:n.1636-6C>A
ENST00000651541.1:c.1339-6C>A	ENSP00000498795.1:n.1339-6C>A
ENST00000651658.1:n.2063-6C>A
ENST00000651723.1:c.*1719-6C>A	ENSP00000498237.1:n.*1719-6C>A
ENST00000652016.1:c.1636-6C>A	ENSP00000498267.1:n.1636-6C>A
ENST00000652485.1:c.1669-6C>A	ENSP00000498973.1:n.1669-6C>A
ENST00000378823.7:c.1636-6C>A	ENSP00000368100.4:n.1636-6C>A
ENST00000423956.5:c.1635+465C>A	ENSP00000390971.1:n.1635+465C>A
ENST00000434288.1:c.131-6C>A
ENST00000453394.5:c.1453-6C>A	ENSP00000400049.1:n.1453-6C>A
ENST00000533482.5:c.*1262-6C>A	ENSP00000431225.1:n.*1262-6C>A
NM_005732.3:c.1636-6C>A	NP_005723.2:n.1636-6C>A
NM_005732.4:c.1636-6C>A MANE Select	NP_005723.2:n.1636-6C>A