Canonical Allele Identifier: CA380152780

Gene: RAG1

Linked Data

• gnomAD v4: 11-36574859-C-T
• MyVariant Identifiers: chr11:g.36596409C>T (hg19) ; chr11:g.36574859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36574859C>T , CM000673.2:g.36574859C>T	GRCh38
NC_000011.9:g.36596409C>T , CM000673.1:g.36596409C>T	GRCh37
NC_000011.8:g.36552985C>T	NCBI36
NG_007528.1:g.11847C>T , LRG_98:g.11847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.1555C>T	ENSP00000513411.1:p.His519Tyr
ENST00000697714.1:c.1555C>T	ENSP00000513412.1:p.His519Tyr
ENST00000697715.1:c.1555C>T	ENSP00000513413.1:p.His519Tyr
ENST00000299440.6:c.1555C>T MANE Select	ENSP00000299440.5:p.His519Tyr
ENST00000299440.5:c.1555C>T	ENSP00000299440.5:p.His519Tyr
ENST00000534663.1:c.1555C>T	ENSP00000434610.1:p.His519Tyr
NM_000448.2:c.1555C>T , LRG_98t1:c.1555C>T	NP_000439.1:p.His519Tyr
XM_005253041.3:c.1555C>T	XP_005253098.1:p.His519Tyr
XM_011520250.1:c.1555C>T	XP_011518552.1:p.His519Tyr
XM_011520251.1:c.1555C>T	XP_011518553.1:p.His519Tyr
XM_005253041.4:c.1555C>T	XP_005253098.1:p.His519Tyr
XM_011520250.2:c.1555C>T	XP_011518552.1:p.His519Tyr
NM_000448.3:c.1555C>T MANE Select	NP_000439.2:p.His519Tyr
NM_001377277.1:c.1555C>T	NP_001364206.1:p.His519Tyr
NM_001377278.1:c.1555C>T	NP_001364207.1:p.His519Tyr
NM_001377279.1:c.1555C>T	NP_001364208.1:p.His519Tyr
NM_001377280.1:c.1555C>T	NP_001364209.1:p.His519Tyr