Canonical Allele Identifier: CA2067979413
Gene: ORAI1 HGNC NCBI

Linked Data

gnomAD v4: 12-121627240-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627240T>G , CM000674.2:g.121627240T>G GRCh38
NC_000012.11:g.122065146T>G , CM000674.1:g.122065146T>G GRCh37
NC_000012.10:g.120549529T>G NCBI36
NG_007500.1:g.5666T>G , LRG_93:g.5666T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+307T>G
ENST00000617316.2:c.303+190T>G ENSP00000482568.2:n.303+190T>G
ENST00000646827.1:n.501+190T>G
ENST00000611718.1:c.238+66T>G ENSP00000477953.1:n.238+66T>G
ENST00000616379.1:c.303+190T>G ENSP00000480616.1:n.303+190T>G
ENST00000617316.1:c.114+190T>G ENSP00000482568.1:n.114+190T>G
NM_032790.3:c.303+190T>G , LRG_93t1:c.303+190T>G NP_116179.2:n.303+190T>G
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