Canonical Allele Identifier: CA380151488
Community Standard Title: NM_000448.3(RAG1):c.1139A>C (p.Lys380Thr)
Gene: RAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36574443A>C , CM000673.2:g.36574443A>C GRCh38
NC_000011.9:g.36595993A>C , CM000673.1:g.36595993A>C GRCh37
NC_000011.8:g.36552569A>C NCBI36
NG_007528.1:g.11431A>C , LRG_98:g.11431A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000448.3:c.1139A>C MANE Select NP_000439.2:p.Lys380Thr
ENST00000299440.6:c.1139A>C MANE Select ENSP00000299440.5:p.Lys380Thr
NM_000448.2:c.1139A>C , LRG_98t1:c.1139A>C NP_000439.1:p.Lys380Thr
NM_001377277.1:c.1139A>C NP_001364206.1:p.Lys380Thr
NM_001377278.1:c.1139A>C NP_001364207.1:p.Lys380Thr
NM_001377279.1:c.1139A>C NP_001364208.1:p.Lys380Thr
NM_001377280.1:c.1139A>C NP_001364209.1:p.Lys380Thr
ENST00000299440.5:c.1139A>C ENSP00000299440.5:p.Lys380Thr
ENST00000534663.1:c.1139A>C ENSP00000434610.1:p.Lys380Thr
ENST00000697713.1:c.1139A>C ENSP00000513411.1:p.Lys380Thr
ENST00000697714.1:c.1139A>C ENSP00000513412.1:p.Lys380Thr
ENST00000697715.1:c.1139A>C ENSP00000513413.1:p.Lys380Thr
XM_005253041.3:c.1139A>C XP_005253098.1:p.Lys380Thr
XM_005253041.4:c.1139A>C XP_005253098.1:p.Lys380Thr
XM_011520250.1:c.1139A>C XP_011518552.1:p.Lys380Thr
XM_011520250.2:c.1139A>C XP_011518552.1:p.Lys380Thr
XM_011520251.1:c.1139A>C XP_011518553.1:p.Lys380Thr
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