Canonical Allele Identifier: CA360947333

Gene: RAD50

Linked Data

• dbSNP Id: rs1750760354
• gnomAD v4: 5-132594869-C-A
• MyVariant Identifiers: chr5:g.131930561C>A (hg19) ; chr5:g.132594869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594869C>A , CM000667.2:g.132594869C>A	GRCh38
NC_000005.9:g.131930561C>A , CM000667.1:g.131930561C>A	GRCh37
NC_000005.8:g.131958460C>A	NCBI36
NG_021151.1:g.42946C>A
NG_021151.2:g.42893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1794C>A MANE Select	ENSP00000368100.4:p.Asn598Lys
ENST00000638452.2:c.1497C>A	ENSP00000492349.2:p.Asn499Lys
ENST00000638504.1:n.1480-235C>A
ENST00000638568.2:c.1497C>A	ENSP00000491158.2:p.Asn499Lys
ENST00000639899.1:n.2313C>A
ENST00000640655.2:c.1497C>A	ENSP00000491596.2:p.Asn499Lys
ENST00000651160.1:c.*16-235C>A	ENSP00000498829.1:n.*16-235C>A
ENST00000651658.1:n.2337C>A
ENST00000651723.1:c.*1877C>A	ENSP00000498237.1:n.*1877C>A
ENST00000652016.1:c.*88+192C>A	ENSP00000498267.1:n.*88+192C>A
ENST00000652485.1:c.1827C>A	ENSP00000498973.1:p.Asn609Lys
ENST00000378823.7:c.1794C>A	ENSP00000368100.4:p.Asn598Lys
ENST00000423956.5:c.1636C>A	ENSP00000390971.1:p.Gln546Lys
ENST00000453394.5:c.1611C>A	ENSP00000400049.1:p.Asn537Lys
ENST00000533482.5:c.*1420C>A	ENSP00000431225.1:n.*1420C>A
NM_005732.3:c.1794C>A	NP_005723.2:p.Asn598Lys
NM_005732.4:c.1794C>A MANE Select	NP_005723.2:p.Asn598Lys