Canonical Allele Identifier: CA360948060

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457390
• ClinVar RCV Id: RCV000534115
• dbSNP Id: rs1252410157
• MyVariant Identifiers: chr5:g.131930665G>T (hg19) ; chr5:g.132594973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594973G>T , CM000667.2:g.132594973G>T	GRCh38
NC_000005.9:g.131930665G>T , CM000667.1:g.131930665G>T	GRCh37
NC_000005.8:g.131958564G>T	NCBI36
NG_021151.1:g.43050G>T
NG_021151.2:g.42997G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1898G>T MANE Select	ENSP00000368100.4:p.Cys633Phe
ENST00000638452.2:c.1601G>T	ENSP00000492349.2:p.Cys534Phe
ENST00000638504.1:n.1480-131G>T
ENST00000638568.2:c.1601G>T	ENSP00000491158.2:p.Cys534Phe
ENST00000639899.1:n.2417G>T
ENST00000640655.2:c.1601G>T	ENSP00000491596.2:p.Cys534Phe
ENST00000651160.1:c.*16-131G>T	ENSP00000498829.1:n.*16-131G>T
ENST00000651658.1:n.2441G>T
ENST00000651723.1:c.*1981G>T	ENSP00000498237.1:n.*1981G>T
ENST00000652016.1:c.*89-131G>T	ENSP00000498267.1:n.*89-131G>T
ENST00000652485.1:c.1931G>T	ENSP00000498973.1:p.Cys644Phe
ENST00000378823.7:c.1898G>T	ENSP00000368100.4:p.Cys633Phe
ENST00000423956.5:c.*84G>T	ENSP00000390971.1:n.*84G>T
ENST00000453394.5:c.1715G>T	ENSP00000400049.1:p.Cys572Phe
ENST00000533482.5:c.*1524G>T	ENSP00000431225.1:n.*1524G>T
NM_005732.3:c.1898G>T	NP_005723.2:p.Cys633Phe
NM_005732.4:c.1898G>T MANE Select	NP_005723.2:p.Cys633Phe