Canonical Allele Identifier: CA5950196
Gene: RAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404422
ClinVar RCV Id: RCV001927725
dbSNP Id: rs544726387

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36575228A>C , CM000673.2:g.36575228A>C GRCh38
NC_000011.9:g.36596778A>C , CM000673.1:g.36596778A>C GRCh37
NC_000011.8:g.36553354A>C NCBI36
NG_007528.1:g.12216A>C , LRG_98:g.12216A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697713.1:c.1924A>C ENSP00000513411.1:p.Lys642Gln
ENST00000697714.1:c.1924A>C ENSP00000513412.1:p.Lys642Gln
ENST00000697715.1:c.1924A>C ENSP00000513413.1:p.Lys642Gln
ENST00000299440.6:c.1924A>C MANE Select ENSP00000299440.5:p.Lys642Gln
ENST00000299440.5:c.1924A>C ENSP00000299440.5:p.Lys642Gln
ENST00000534663.1:c.1924A>C ENSP00000434610.1:p.Lys642Gln
NM_000448.2:c.1924A>C , LRG_98t1:c.1924A>C NP_000439.1:p.Lys642Gln
XM_005253041.3:c.1924A>C XP_005253098.1:p.Lys642Gln
XM_011520250.1:c.1924A>C XP_011518552.1:p.Lys642Gln
XM_011520251.1:c.1924A>C XP_011518553.1:p.Lys642Gln
XM_005253041.4:c.1924A>C XP_005253098.1:p.Lys642Gln
XM_011520250.2:c.1924A>C XP_011518552.1:p.Lys642Gln
NM_000448.3:c.1924A>C MANE Select NP_000439.2:p.Lys642Gln
NM_001377277.1:c.1924A>C NP_001364206.1:p.Lys642Gln
NM_001377278.1:c.1924A>C NP_001364207.1:p.Lys642Gln
NM_001377279.1:c.1924A>C NP_001364208.1:p.Lys642Gln
NM_001377280.1:c.1924A>C NP_001364209.1:p.Lys642Gln