Canonical Allele Identifier: CA122913
Gene: RAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13156
ClinVar RCV Id: RCV000014042
dbSNP Id: rs121918568

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36574244C>T , CM000673.2:g.36574244C>T GRCh38
NC_000011.9:g.36595794C>T , CM000673.1:g.36595794C>T GRCh37
NC_000011.8:g.36552370C>T NCBI36
NG_007528.1:g.11232C>T , LRG_98:g.11232C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697713.1:c.940C>T ENSP00000513411.1:p.Arg314Trp
ENST00000697714.1:c.940C>T ENSP00000513412.1:p.Arg314Trp
ENST00000697715.1:c.940C>T ENSP00000513413.1:p.Arg314Trp
ENST00000299440.6:c.940C>T MANE Select ENSP00000299440.5:p.Arg314Trp
ENST00000299440.5:c.940C>T ENSP00000299440.5:p.Arg314Trp
ENST00000534663.1:c.940C>T ENSP00000434610.1:p.Arg314Trp
NM_000448.2:c.940C>T , LRG_98t1:c.940C>T NP_000439.1:p.Arg314Trp
XM_005253041.3:c.940C>T XP_005253098.1:p.Arg314Trp
XM_011520250.1:c.940C>T XP_011518552.1:p.Arg314Trp
XM_011520251.1:c.940C>T XP_011518553.1:p.Arg314Trp
XM_005253041.4:c.940C>T XP_005253098.1:p.Arg314Trp
XM_011520250.2:c.940C>T XP_011518552.1:p.Arg314Trp
NM_000448.3:c.940C>T MANE Select NP_000439.2:p.Arg314Trp
NM_001377277.1:c.940C>T NP_001364206.1:p.Arg314Trp
NM_001377278.1:c.940C>T NP_001364207.1:p.Arg314Trp
NM_001377279.1:c.940C>T NP_001364208.1:p.Arg314Trp
NM_001377280.1:c.940C>T NP_001364209.1:p.Arg314Trp