Canonical Allele Identifier: CA360947720

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930619A>G (hg19) ; chr5:g.132594927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594927A>G , CM000667.2:g.132594927A>G	GRCh38
NC_000005.9:g.131930619A>G , CM000667.1:g.131930619A>G	GRCh37
NC_000005.8:g.131958518A>G	NCBI36
NG_021151.1:g.43004A>G
NG_021151.2:g.42951A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1852A>G MANE Select	ENSP00000368100.4:p.Lys618Glu
ENST00000638452.2:c.1555A>G	ENSP00000492349.2:p.Lys519Glu
ENST00000638504.1:n.1480-177A>G
ENST00000638568.2:c.1555A>G	ENSP00000491158.2:p.Lys519Glu
ENST00000639899.1:n.2371A>G
ENST00000640655.2:c.1555A>G	ENSP00000491596.2:p.Lys519Glu
ENST00000651160.1:c.*16-177A>G	ENSP00000498829.1:n.*16-177A>G
ENST00000651658.1:n.2395A>G
ENST00000651723.1:c.*1935A>G	ENSP00000498237.1:n.*1935A>G
ENST00000652016.1:c.*89-177A>G	ENSP00000498267.1:n.*89-177A>G
ENST00000652485.1:c.1885A>G	ENSP00000498973.1:p.Lys629Glu
ENST00000378823.7:c.1852A>G	ENSP00000368100.4:p.Lys618Glu
ENST00000423956.5:c.*38A>G	ENSP00000390971.1:n.*38A>G
ENST00000453394.5:c.1669A>G	ENSP00000400049.1:p.Lys557Glu
ENST00000533482.5:c.*1478A>G	ENSP00000431225.1:n.*1478A>G
NM_005732.3:c.1852A>G	NP_005723.2:p.Lys618Glu
NM_005732.4:c.1852A>G MANE Select	NP_005723.2:p.Lys618Glu