Canonical Allele Identifier: CA952632161
Gene: ORAI1 HGNC NCBI

Linked Data

dbSNP Id: rs928514024
gnomAD v3: 12-121627222-G-C
gnomAD v4: 12-121627222-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627222G>C , CM000674.2:g.121627222G>C GRCh38
NC_000012.11:g.122065128G>C , CM000674.1:g.122065128G>C GRCh37
NC_000012.10:g.120549511G>C NCBI36
NG_007500.1:g.5648G>C , LRG_93:g.5648G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+289G>C
ENST00000617316.2:c.303+172G>C ENSP00000482568.2:n.303+172G>C
ENST00000646827.1:n.501+172G>C
ENST00000611718.1:c.238+48G>C ENSP00000477953.1:n.238+48G>C
ENST00000616379.1:c.303+172G>C ENSP00000480616.1:n.303+172G>C
ENST00000617316.1:c.114+172G>C ENSP00000482568.1:n.114+172G>C
NM_032790.3:c.303+172G>C , LRG_93t1:c.303+172G>C NP_116179.2:n.303+172G>C
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