Canonical Allele Identifier: CA122874
Gene: RAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13139
dbSNP Id: rs28933392

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36575468G>A , CM000673.2:g.36575468G>A GRCh38
NC_000011.9:g.36597018G>A , CM000673.1:g.36597018G>A GRCh37
NC_000011.8:g.36553594G>A NCBI36
NG_007528.1:g.12456G>A , LRG_98:g.12456G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697713.1:c.2164G>A ENSP00000513411.1:p.Glu722Lys
ENST00000697714.1:c.2164G>A ENSP00000513412.1:p.Glu722Lys
ENST00000697715.1:c.2164G>A ENSP00000513413.1:p.Glu722Lys
ENST00000299440.6:c.2164G>A MANE Select ENSP00000299440.5:p.Glu722Lys
ENST00000299440.5:c.2164G>A ENSP00000299440.5:p.Glu722Lys
ENST00000534663.1:c.2164G>A ENSP00000434610.1:p.Glu722Lys
NM_000448.2:c.2164G>A , LRG_98t1:c.2164G>A NP_000439.1:p.Glu722Lys
XM_005253041.3:c.2164G>A XP_005253098.1:p.Glu722Lys
XM_011520250.1:c.2164G>A XP_011518552.1:p.Glu722Lys
XM_011520251.1:c.2164G>A XP_011518553.1:p.Glu722Lys
XM_005253041.4:c.2164G>A XP_005253098.1:p.Glu722Lys
XM_011520250.2:c.2164G>A XP_011518552.1:p.Glu722Lys
NM_000448.3:c.2164G>A MANE Select NP_000439.2:p.Glu722Lys
NM_001377277.1:c.2164G>A NP_001364206.1:p.Glu722Lys
NM_001377278.1:c.2164G>A NP_001364207.1:p.Glu722Lys
NM_001377279.1:c.2164G>A NP_001364208.1:p.Glu722Lys
NM_001377280.1:c.2164G>A NP_001364209.1:p.Glu722Lys