Canonical Allele Identifier: CA10638375

Gene: RAG1

Linked Data

• ClinVar Variation Id: 304487
• ClinVar RCV Id: RCV000281963 ; RCV000376745
• dbSNP Id: rs872052
• gnomAD v2: 11-36589573-G-A
• gnomAD v3: 11-36568023-G-A
• gnomAD v4: 11-36568023-G-A
• MyVariant Identifiers: chr11:g.36589573G>A (hg19) ; chr11:g.36568023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36568023G>A , CM000673.2:g.36568023G>A	GRCh38
NC_000011.9:g.36589573G>A , CM000673.1:g.36589573G>A	GRCh37
NC_000011.8:g.36546149G>A	NCBI36
NG_007528.1:g.5011G>A , LRG_98:g.5011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.-15+4523G>A	ENSP00000513411.1:n.-15+4523G>A
ENST00000697714.1:c.-14-5268G>A	ENSP00000513412.1:n.-14-5268G>A
ENST00000697715.1:c.-15+4525G>A	ENSP00000513413.1:n.-15+4525G>A
ENST00000299440.6:c.-114G>A MANE Select	ENSP00000299440.5:n.-114G>A
ENST00000534663.1:c.-15+594G>A	ENSP00000434610.1:n.-15+594G>A
NM_000448.2:c.-114G>A , LRG_98t1:c.-114G>A	NP_000439.1:n.-114G>A
XM_005253041.3:c.-14-5268G>A	XP_005253098.1:n.-14-5268G>A
XM_011520250.1:c.-15+4525G>A	XP_011518552.1:n.-15+4525G>A
XM_011520251.1:c.-15+4525G>A	XP_011518553.1:n.-15+4525G>A
XM_005253041.4:c.-14-5268G>A	XP_005253098.1:n.-14-5268G>A
XM_011520250.2:c.-15+4525G>A	XP_011518552.1:n.-15+4525G>A
NM_000448.3:c.-114G>A MANE Select	NP_000439.2:n.-114G>A
NM_001377277.1:c.-15+4525G>A	NP_001364206.1:n.-15+4525G>A
NM_001377278.1:c.-15+4525G>A	NP_001364207.1:n.-15+4525G>A
NM_001377279.1:c.-15+4525G>A	NP_001364208.1:n.-15+4525G>A
NM_001377280.1:c.-14-5268G>A	NP_001364209.1:n.-14-5268G>A