Canonical Allele Identifier: CA360947739

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930622G>T (hg19) ; chr5:g.132594930G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594930G>T , CM000667.2:g.132594930G>T	GRCh38
NC_000005.9:g.131930622G>T , CM000667.1:g.131930622G>T	GRCh37
NC_000005.8:g.131958521G>T	NCBI36
NG_021151.1:g.43007G>T
NG_021151.2:g.42954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1855G>T MANE Select	ENSP00000368100.4:p.Glu619Ter
ENST00000638452.2:c.1558G>T	ENSP00000492349.2:p.Glu520Ter
ENST00000638504.1:n.1480-174G>T
ENST00000638568.2:c.1558G>T	ENSP00000491158.2:p.Glu520Ter
ENST00000639899.1:n.2374G>T
ENST00000640655.2:c.1558G>T	ENSP00000491596.2:p.Glu520Ter
ENST00000651160.1:c.*16-174G>T	ENSP00000498829.1:n.*16-174G>T
ENST00000651658.1:n.2398G>T
ENST00000651723.1:c.*1938G>T	ENSP00000498237.1:n.*1938G>T
ENST00000652016.1:c.*89-174G>T	ENSP00000498267.1:n.*89-174G>T
ENST00000652485.1:c.1888G>T	ENSP00000498973.1:p.Glu630Ter
ENST00000378823.7:c.1855G>T	ENSP00000368100.4:p.Glu619Ter
ENST00000423956.5:c.*41G>T	ENSP00000390971.1:n.*41G>T
ENST00000453394.5:c.1672G>T	ENSP00000400049.1:p.Glu558Ter
ENST00000533482.5:c.*1481G>T	ENSP00000431225.1:n.*1481G>T
NM_005732.3:c.1855G>T	NP_005723.2:p.Glu619Ter
NM_005732.4:c.1855G>T MANE Select	NP_005723.2:p.Glu619Ter