Canonical Allele Identifier: CA360955867

Gene: RAD50

Linked Data

• dbSNP Id: rs2149847325
• MyVariant Identifiers: chr5:g.131939720C>T (hg19) ; chr5:g.132604028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604028C>T , CM000667.2:g.132604028C>T	GRCh38
NC_000005.9:g.131939720C>T , CM000667.1:g.131939720C>T	GRCh37
NC_000005.8:g.131967619C>T	NCBI36
NG_021151.1:g.52105C>T
NG_021151.2:g.52052C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2506C>T MANE Select	ENSP00000368100.4:p.Gln836Ter
ENST00000638452.2:c.2209C>T	ENSP00000492349.2:p.Gln737Ter
ENST00000638504.1:n.2114C>T
ENST00000638568.2:c.2209C>T	ENSP00000491158.2:p.Gln737Ter
ENST00000639899.1:n.3025C>T
ENST00000640655.2:c.2209C>T	ENSP00000491596.2:p.Gln737Ter
ENST00000651160.1:c.*650C>T	ENSP00000498829.1:n.*650C>T
ENST00000651658.1:n.3049C>T
ENST00000651723.1:c.*2589C>T	ENSP00000498237.1:n.*2589C>T
ENST00000652016.1:c.*723C>T	ENSP00000498267.1:n.*723C>T
ENST00000652485.1:c.2539C>T	ENSP00000498973.1:p.Gln847Ter
ENST00000378823.7:c.2506C>T	ENSP00000368100.4:p.Gln836Ter
ENST00000423956.5:c.*692C>T	ENSP00000390971.1:n.*692C>T
ENST00000533482.5:c.*2132C>T	ENSP00000431225.1:n.*2132C>T
NM_005732.3:c.2506C>T	NP_005723.2:p.Gln836Ter
NM_005732.4:c.2506C>T MANE Select	NP_005723.2:p.Gln836Ter