Canonical Allele Identifier: CA360947924

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2678156
• ClinVar RCV Id: RCV003463435
• MyVariant Identifiers: chr5:g.131930643G>T (hg19) ; chr5:g.132594951G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594951G>T , CM000667.2:g.132594951G>T	GRCh38
NC_000005.9:g.131930643G>T , CM000667.1:g.131930643G>T	GRCh37
NC_000005.8:g.131958542G>T	NCBI36
NG_021151.1:g.43028G>T
NG_021151.2:g.42975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1876G>T MANE Select	ENSP00000368100.4:p.Glu626Ter
ENST00000638452.2:c.1579G>T	ENSP00000492349.2:p.Glu527Ter
ENST00000638504.1:n.1480-153G>T
ENST00000638568.2:c.1579G>T	ENSP00000491158.2:p.Glu527Ter
ENST00000639899.1:n.2395G>T
ENST00000640655.2:c.1579G>T	ENSP00000491596.2:p.Glu527Ter
ENST00000651160.1:c.*16-153G>T	ENSP00000498829.1:n.*16-153G>T
ENST00000651658.1:n.2419G>T
ENST00000651723.1:c.*1959G>T	ENSP00000498237.1:n.*1959G>T
ENST00000652016.1:c.*89-153G>T	ENSP00000498267.1:n.*89-153G>T
ENST00000652485.1:c.1909G>T	ENSP00000498973.1:p.Glu637Ter
ENST00000378823.7:c.1876G>T	ENSP00000368100.4:p.Glu626Ter
ENST00000423956.5:c.*62G>T	ENSP00000390971.1:n.*62G>T
ENST00000453394.5:c.1693G>T	ENSP00000400049.1:p.Glu565Ter
ENST00000533482.5:c.*1502G>T	ENSP00000431225.1:n.*1502G>T
NM_005732.3:c.1876G>T	NP_005723.2:p.Glu626Ter
NM_005732.4:c.1876G>T MANE Select	NP_005723.2:p.Glu626Ter