ClinGen Allele Registry
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Canonical Allele Identifier:
CA386981587
Gene: ORAI1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.122065024G>T (hg19)
chr12:g.121627118G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121627118G>T , CM000674.2:g.121627118G>T
GRCh38
NC_000012.11:g.122065024G>T , CM000674.1:g.122065024G>T
GRCh37
NC_000012.10:g.120549407G>T
NCBI36
NG_007500.1:g.5544G>T , LRG_93:g.5544G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698901.1:n.425+185G>T
ENST00000617316.2:c.303+68G>T
ENSP00000482568.2:n.303+68G>T
ENST00000646827.1:n.501+68G>T
ENST00000611718.1:c.182G>T
ENSP00000477953.1:p.Gly61Val
ENST00000616379.1:c.303+68G>T
ENSP00000480616.1:n.303+68G>T
ENST00000617316.1:c.114+68G>T
ENSP00000482568.1:n.114+68G>T
NM_032790.3:c.303+68G>T , LRG_93t1:c.303+68G>T
NP_116179.2:n.303+68G>T
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