Canonical Allele Identifier: CA1964212747
Community Standard Title: NM_000448.3(RAG1):c.1286A= (p.Asp429=)
Gene: RAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36574590A= , CM000673.2:g.36574590A= GRCh38
NC_000011.9:g.36596140A= , CM000673.1:g.36596140A= GRCh37
NC_000011.8:g.36552716A= NCBI36
NG_007528.1:g.11578A= , LRG_98:g.11578A=

Transcript Alleles

HGVS Amino-acid Change
NM_000448.3:c.1286A= MANE Select NP_000439.2:p.Asp429=
ENST00000299440.6:c.1286A= MANE Select ENSP00000299440.5:p.Asp429=
NM_000448.2:c.1286A= , LRG_98t1:c.1286A= NP_000439.1:p.Asp429=
NM_001377277.1:c.1286A= NP_001364206.1:p.Asp429=
NM_001377278.1:c.1286A= NP_001364207.1:p.Asp429=
NM_001377279.1:c.1286A= NP_001364208.1:p.Asp429=
NM_001377280.1:c.1286A= NP_001364209.1:p.Asp429=
ENST00000299440.5:c.1286A= ENSP00000299440.5:p.Asp429=
ENST00000534663.1:c.1286A= ENSP00000434610.1:p.Asp429=
ENST00000697713.1:c.1286A= ENSP00000513411.1:p.Asp429=
ENST00000697714.1:c.1286A= ENSP00000513412.1:p.Asp429=
ENST00000697715.1:c.1286A= ENSP00000513413.1:p.Asp429=
XM_005253041.3:c.1286A= XP_005253098.1:p.Asp429=
XM_005253041.4:c.1286A= XP_005253098.1:p.Asp429=
XM_011520250.1:c.1286A= XP_011518552.1:p.Asp429=
XM_011520250.2:c.1286A= XP_011518552.1:p.Asp429=
XM_011520251.1:c.1286A= XP_011518553.1:p.Asp429=