Canonical Allele Identifier: CA2067979433
Gene: ORAI1 HGNC NCBI

Linked Data

dbSNP Id: rs1892801091
gnomAD v4: 12-121627273-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627273T>C , CM000674.2:g.121627273T>C GRCh38
NC_000012.11:g.122065179T>C , CM000674.1:g.122065179T>C GRCh37
NC_000012.10:g.120549562T>C NCBI36
NG_007500.1:g.5699T>C , LRG_93:g.5699T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+340T>C
ENST00000617316.2:c.303+223T>C ENSP00000482568.2:n.303+223T>C
ENST00000646827.1:n.501+223T>C
ENST00000611718.1:c.238+99T>C ENSP00000477953.1:n.238+99T>C
ENST00000616379.1:c.303+223T>C ENSP00000480616.1:n.303+223T>C
ENST00000617316.1:c.114+223T>C ENSP00000482568.1:n.114+223T>C
NM_032790.3:c.303+223T>C , LRG_93t1:c.303+223T>C NP_116179.2:n.303+223T>C
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