ClinGen Allele Registry
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Canonical Allele Identifier:
CA386981874
Gene: ORAI1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.122065080G>C (hg19)
chr12:g.121627174G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121627174G>C , CM000674.2:g.121627174G>C
GRCh38
NC_000012.11:g.122065080G>C , CM000674.1:g.122065080G>C
GRCh37
NC_000012.10:g.120549463G>C
NCBI36
NG_007500.1:g.5600G>C , LRG_93:g.5600G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698901.1:n.425+241G>C
ENST00000617316.2:c.303+124G>C
ENSP00000482568.2:n.303+124G>C
ENST00000646827.1:n.501+124G>C
ENST00000611718.1:c.238G>C
ENSP00000477953.1:p.Gly80Arg
ENST00000616379.1:c.303+124G>C
ENSP00000480616.1:n.303+124G>C
ENST00000617316.1:c.114+124G>C
ENSP00000482568.1:n.114+124G>C
NM_032790.3:c.303+124G>C , LRG_93t1:c.303+124G>C
NP_116179.2:n.303+124G>C
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