Canonical Allele Identifier: CA360947498

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2908006
• ClinVar RCV Id: RCV003747537
• MyVariant Identifiers: chr5:g.131930586A>C (hg19) ; chr5:g.132594894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594894A>C , CM000667.2:g.132594894A>C	GRCh38
NC_000005.9:g.131930586A>C , CM000667.1:g.131930586A>C	GRCh37
NC_000005.8:g.131958485A>C	NCBI36
NG_021151.1:g.42971A>C
NG_021151.2:g.42918A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1819A>C MANE Select	ENSP00000368100.4:p.Asn607His
ENST00000638452.2:c.1522A>C	ENSP00000492349.2:p.Asn508His
ENST00000638504.1:n.1480-210A>C
ENST00000638568.2:c.1522A>C	ENSP00000491158.2:p.Asn508His
ENST00000639899.1:n.2338A>C
ENST00000640655.2:c.1522A>C	ENSP00000491596.2:p.Asn508His
ENST00000651160.1:c.*16-210A>C	ENSP00000498829.1:n.*16-210A>C
ENST00000651658.1:n.2362A>C
ENST00000651723.1:c.*1902A>C	ENSP00000498237.1:n.*1902A>C
ENST00000652016.1:c.*89-210A>C	ENSP00000498267.1:n.*89-210A>C
ENST00000652485.1:c.1852A>C	ENSP00000498973.1:p.Asn618His
ENST00000378823.7:c.1819A>C	ENSP00000368100.4:p.Asn607His
ENST00000423956.5:c.*5A>C	ENSP00000390971.1:n.*5A>C
ENST00000453394.5:c.1636A>C	ENSP00000400049.1:p.Asn546His
ENST00000533482.5:c.*1445A>C	ENSP00000431225.1:n.*1445A>C
NM_005732.3:c.1819A>C	NP_005723.2:p.Asn607His
NM_005732.4:c.1819A>C MANE Select	NP_005723.2:p.Asn607His