Canonical Allele Identifier: CA446495091
Gene: RAD50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131944856A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609164A>G , CM000667.2:g.132609164A>G GRCh38
NC_000005.9:g.131944856A>G , CM000667.1:g.131944856A>G GRCh37
NC_000005.8:g.131972755A>G NCBI36
NG_021151.1:g.57241A>G
NG_021151.2:g.57188A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2877A>G MANE Select ENSP00000368100.4:p.Lys959=
ENST00000638452.2:c.2580A>G ENSP00000492349.2:p.Lys860=
ENST00000638504.1:n.2485A>G
ENST00000638568.2:c.2580A>G ENSP00000491158.2:p.Lys860=
ENST00000639899.1:n.3396A>G
ENST00000640655.2:c.2580A>G ENSP00000491596.2:p.Lys860=
ENST00000651160.1:c.*1021A>G ENSP00000498829.1:n.*1021A>G
ENST00000651723.1:c.*2960A>G ENSP00000498237.1:n.*2960A>G
ENST00000378823.7:c.2877A>G ENSP00000368100.4:p.Lys959=
ENST00000423956.5:c.*1063A>G ENSP00000390971.1:n.*1063A>G
ENST00000533482.5:c.*2503A>G ENSP00000431225.1:n.*2503A>G
NM_005732.3:c.2877A>G NP_005723.2:p.Lys959=
NM_005732.4:c.2877A>G MANE Select NP_005723.2:p.Lys959=