Canonical Allele Identifier: CA5950243

Linked Data

ClinVar Variation Id: 1050623
dbSNP Id: rs768809293
COSMIC: COSM926740

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36575595G>A , CM000673.2:g.36575595G>A GRCh38
NC_000011.9:g.36597145G>A , CM000673.1:g.36597145G>A GRCh37
NC_000011.8:g.36553721G>A NCBI36
NG_007528.1:g.12583G>A , LRG_98:g.12583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697713.1:c.2291G>A (RAG1) ENSP00000513411.1:p.Arg764His
ENST00000697714.1:c.2291G>A (RAG1) ENSP00000513412.1:p.Arg764His
ENST00000697715.1:c.2291G>A (RAG1) ENSP00000513413.1:p.Arg764His
ENST00000299440.6:c.2291G>A (RAG1) MANE Select ENSP00000299440.5:p.Arg764His
ENST00000299440.5:c.2291G>A (RAG1) ENSP00000299440.5:p.Arg764His
ENST00000524423.1:n.508C>T (RAG2)
ENST00000534663.1:c.2291G>A (RAG1) ENSP00000434610.1:p.Arg764His
NM_000448.2:c.2291G>A , LRG_98t1:c.2291G>A (RAG1) NP_000439.1:p.Arg764His
XM_005253041.3:c.2291G>A (RAG1) XP_005253098.1:p.Arg764His
XM_011520250.1:c.2291G>A (RAG1) XP_011518552.1:p.Arg764His
XM_011520251.1:c.2291G>A (RAG1) XP_011518553.1:p.Arg764His
XM_005253041.4:c.2291G>A (RAG1) XP_005253098.1:p.Arg764His
XM_011520250.2:c.2291G>A (RAG1) XP_011518552.1:p.Arg764His
NM_000448.3:c.2291G>A (RAG1) MANE Select NP_000439.2:p.Arg764His
NM_001377277.1:c.2291G>A (RAG1) NP_001364206.1:p.Arg764His
NM_001377278.1:c.2291G>A (RAG1) NP_001364207.1:p.Arg764His
NM_001377279.1:c.2291G>A (RAG1) NP_001364208.1:p.Arg764His
NM_001377280.1:c.2291G>A (RAG1) NP_001364209.1:p.Arg764His