Canonical Allele Identifier: CA446364953

Gene: RAD50

Linked Data

• gnomAD v4: 5-132618253-T-G
• MyVariant Identifiers: chr5:g.131953945T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618253T>G , CM000667.2:g.132618253T>G	GRCh38
NC_000005.9:g.131953945T>G , CM000667.1:g.131953945T>G	GRCh37
NC_000005.8:g.131981844T>G	NCBI36
NG_021151.1:g.66330T>G
NG_021151.2:g.66277T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3348T>G MANE Select	ENSP00000368100.4:p.Leu1116=
ENST00000638452.2:c.3051T>G	ENSP00000492349.2:p.Leu1017=
ENST00000638504.1:n.2956T>G
ENST00000638568.2:c.3051T>G	ENSP00000491158.2:p.Leu1017=
ENST00000639899.1:n.3867T>G
ENST00000640655.2:c.3051T>G	ENSP00000491596.2:p.Leu1017=
ENST00000651249.1:c.184T>G
ENST00000378823.7:c.3348T>G	ENSP00000368100.4:p.Leu1116=
ENST00000533482.5:c.*2974T>G	ENSP00000431225.1:n.*2974T>G
NM_005732.3:c.3348T>G	NP_005723.2:p.Leu1116=
NM_005732.4:c.3348T>G MANE Select	NP_005723.2:p.Leu1116=