Canonical Allele Identifier: CA446362945

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131931323A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595631A>G , CM000667.2:g.132595631A>G	GRCh38
NC_000005.9:g.131931323A>G , CM000667.1:g.131931323A>G	GRCh37
NC_000005.8:g.131959222A>G	NCBI36
NG_021151.1:g.43708A>G
NG_021151.2:g.43655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2028A>G MANE Select	ENSP00000368100.4:p.Glu676=
ENST00000638452.2:c.1731A>G	ENSP00000492349.2:p.Glu577=
ENST00000638504.1:n.1636A>G
ENST00000638568.2:c.1731A>G	ENSP00000491158.2:p.Glu577=
ENST00000639899.1:n.2547A>G
ENST00000640655.2:c.1731A>G	ENSP00000491596.2:p.Glu577=
ENST00000651160.1:c.*172A>G	ENSP00000498829.1:n.*172A>G
ENST00000651658.1:n.2571A>G
ENST00000651723.1:c.*2111A>G	ENSP00000498237.1:n.*2111A>G
ENST00000652016.1:c.*245A>G	ENSP00000498267.1:n.*245A>G
ENST00000652485.1:c.2061A>G	ENSP00000498973.1:p.Glu687=
ENST00000378823.7:c.2028A>G	ENSP00000368100.4:p.Glu676=
ENST00000423956.5:c.*214A>G	ENSP00000390971.1:n.*214A>G
ENST00000453394.5:c.1845A>G	ENSP00000400049.1:p.Glu615=
ENST00000496204.1:n.111A>G
ENST00000533482.5:c.*1654A>G	ENSP00000431225.1:n.*1654A>G
NM_005732.3:c.2028A>G	NP_005723.2:p.Glu676=
NM_005732.4:c.2028A>G MANE Select	NP_005723.2:p.Glu676=