Canonical Allele Identifier: CA114898
Gene: ORAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1283
ClinVar RCV Id: RCV000001346
dbSNP Id: rs118203993
MyVariant Identifiers: chr12:g.122064924C>T (hg19) chr12:g.121627018C>T (hg38)
PubMed: PMID:8814256 PMID:16582901 PMID:18187424
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627018C>T , CM000674.2:g.121627018C>T GRCh38
NC_000012.11:g.122064924C>T , CM000674.1:g.122064924C>T GRCh37
NC_000012.10:g.120549307C>T NCBI36
NG_007500.1:g.5444C>T , LRG_93:g.5444C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698901.1:n.425+85C>T
ENST00000617316.2:c.271C>T ENSP00000482568.2:p.Arg91Trp
ENST00000646827.1:n.469C>T
ENST00000611718.1:c.82C>T ENSP00000477953.1:p.Arg28Trp
ENST00000616379.1:c.271C>T ENSP00000480616.1:p.Arg91Trp
ENST00000617316.1:c.82C>T ENSP00000482568.1:p.Arg28Trp
NM_032790.3:c.271C>T , LRG_93t1:c.271C>T NP_116179.2:p.Arg91Trp
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