Canonical Allele Identifier: CA2621442574
Gene: ORAI1 HGNC NCBI

Linked Data

gnomAD v4: 12-121627180-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627180C>A , CM000674.2:g.121627180C>A GRCh38
NC_000012.11:g.122065086C>A , CM000674.1:g.122065086C>A GRCh37
NC_000012.10:g.120549469C>A NCBI36
NG_007500.1:g.5606C>A , LRG_93:g.5606C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+247C>A
ENST00000617316.2:c.303+130C>A ENSP00000482568.2:n.303+130C>A
ENST00000646827.1:n.501+130C>A
ENST00000611718.1:c.238+6C>A ENSP00000477953.1:n.238+6C>A
ENST00000616379.1:c.303+130C>A ENSP00000480616.1:n.303+130C>A
ENST00000617316.1:c.114+130C>A ENSP00000482568.1:n.114+130C>A
NM_032790.3:c.303+130C>A , LRG_93t1:c.303+130C>A NP_116179.2:n.303+130C>A
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