Canonical Allele Identifier: CA482433260
Gene: ORAI1 HGNC NCBI

Linked Data

dbSNP Id: rs2136842145
gnomAD v4: 12-121627044-C-T
MyVariant Identifiers: chr12:g.122064950C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627044C>T , CM000674.2:g.121627044C>T GRCh38
NC_000012.11:g.122064950C>T , CM000674.1:g.122064950C>T GRCh37
NC_000012.10:g.120549333C>T NCBI36
NG_007500.1:g.5470C>T , LRG_93:g.5470C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+111C>T
ENST00000617316.2:c.297C>T ENSP00000482568.2:p.Phe99=
ENST00000646827.1:n.495C>T
ENST00000611718.1:c.108C>T ENSP00000477953.1:p.Phe36=
ENST00000616379.1:c.297C>T ENSP00000480616.1:p.Phe99=
ENST00000617316.1:c.108C>T ENSP00000482568.1:p.Phe36=
NM_032790.3:c.297C>T , LRG_93t1:c.297C>T NP_116179.2:p.Phe99=
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