Canonical Allele Identifier: CA380153994
Gene: RAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480007
ClinVar RCV Id: RCV001991138
dbSNP Id: rs1197216177
gnomAD v3: 11-36575406-T-A
gnomAD v4: 11-36575406-T-A
MyVariant Identifiers: chr11:g.36596956T>A (hg19) chr11:g.36575406T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36575406T>A , CM000673.2:g.36575406T>A GRCh38
NC_000011.9:g.36596956T>A , CM000673.1:g.36596956T>A GRCh37
NC_000011.8:g.36553532T>A NCBI36
NG_007528.1:g.12394T>A , LRG_98:g.12394T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697713.1:c.2102T>A ENSP00000513411.1:p.Phe701Tyr
ENST00000697714.1:c.2102T>A ENSP00000513412.1:p.Phe701Tyr
ENST00000697715.1:c.2102T>A ENSP00000513413.1:p.Phe701Tyr
ENST00000299440.6:c.2102T>A MANE Select ENSP00000299440.5:p.Phe701Tyr
ENST00000299440.5:c.2102T>A ENSP00000299440.5:p.Phe701Tyr
ENST00000534663.1:c.2102T>A ENSP00000434610.1:p.Phe701Tyr
NM_000448.2:c.2102T>A , LRG_98t1:c.2102T>A NP_000439.1:p.Phe701Tyr
XM_005253041.3:c.2102T>A XP_005253098.1:p.Phe701Tyr
XM_011520250.1:c.2102T>A XP_011518552.1:p.Phe701Tyr
XM_011520251.1:c.2102T>A XP_011518553.1:p.Phe701Tyr
XM_005253041.4:c.2102T>A XP_005253098.1:p.Phe701Tyr
XM_011520250.2:c.2102T>A XP_011518552.1:p.Phe701Tyr
NM_000448.3:c.2102T>A MANE Select NP_000439.2:p.Phe701Tyr
NM_001377277.1:c.2102T>A NP_001364206.1:p.Phe701Tyr
NM_001377278.1:c.2102T>A NP_001364207.1:p.Phe701Tyr
NM_001377279.1:c.2102T>A NP_001364208.1:p.Phe701Tyr
NM_001377280.1:c.2102T>A NP_001364209.1:p.Phe701Tyr
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