ClinGen Allele Registry
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Canonical Allele Identifier:
CA386981840
Gene: ORAI1
HGNC
NCBI
Linked Data
gnomAD v4:
12-121627168-A-C
MyVariant Identifiers:
chr12:g.122065074A>C (hg19)
chr12:g.121627168A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121627168A>C , CM000674.2:g.121627168A>C
GRCh38
NC_000012.11:g.122065074A>C , CM000674.1:g.122065074A>C
GRCh37
NC_000012.10:g.120549457A>C
NCBI36
NG_007500.1:g.5594A>C , LRG_93:g.5594A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698901.1:n.425+235A>C
ENST00000617316.2:c.303+118A>C
ENSP00000482568.2:n.303+118A>C
ENST00000646827.1:n.501+118A>C
ENST00000611718.1:c.232A>C
ENSP00000477953.1:p.Asn78His
ENST00000616379.1:c.303+118A>C
ENSP00000480616.1:n.303+118A>C
ENST00000617316.1:c.114+118A>C
ENSP00000482568.1:n.114+118A>C
NM_032790.3:c.303+118A>C , LRG_93t1:c.303+118A>C
NP_116179.2:n.303+118A>C
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