Canonical Allele Identifier: CA952632179
Gene: ORAI1 HGNC NCBI

Linked Data

dbSNP Id: rs1892801118
gnomAD v3: 12-121627274-C-T
gnomAD v4: 12-121627274-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627274C>T , CM000674.2:g.121627274C>T GRCh38
NC_000012.11:g.122065180C>T , CM000674.1:g.122065180C>T GRCh37
NC_000012.10:g.120549563C>T NCBI36
NG_007500.1:g.5700C>T , LRG_93:g.5700C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+341C>T
ENST00000617316.2:c.303+224C>T ENSP00000482568.2:n.303+224C>T
ENST00000646827.1:n.501+224C>T
ENST00000611718.1:c.238+100C>T ENSP00000477953.1:n.238+100C>T
ENST00000616379.1:c.303+224C>T ENSP00000480616.1:n.303+224C>T
ENST00000617316.1:c.114+224C>T ENSP00000482568.1:n.114+224C>T
NM_032790.3:c.303+224C>T , LRG_93t1:c.303+224C>T NP_116179.2:n.303+224C>T
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