ClinGen Allele Registry
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Canonical Allele Identifier:
CA244608687
Gene: ORAI1
HGNC
NCBI
Linked Data
dbSNP Id:
rs997109059
gnomAD v3:
12-121627147-G-A
gnomAD v4:
12-121627147-G-A
MyVariant Identifiers:
chr12:g.122065053G>A (hg19)
chr12:g.121627147G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121627147G>A , CM000674.2:g.121627147G>A
GRCh38
NC_000012.11:g.122065053G>A , CM000674.1:g.122065053G>A
GRCh37
NC_000012.10:g.120549436G>A
NCBI36
NG_007500.1:g.5573G>A , LRG_93:g.5573G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698901.1:n.425+214G>A
ENST00000617316.2:c.303+97G>A
ENSP00000482568.2:n.303+97G>A
ENST00000646827.1:n.501+97G>A
ENST00000611718.1:c.211G>A
ENSP00000477953.1:p.Val71Met
ENST00000616379.1:c.303+97G>A
ENSP00000480616.1:n.303+97G>A
ENST00000617316.1:c.114+97G>A
ENSP00000482568.1:n.114+97G>A
NM_032790.3:c.303+97G>A , LRG_93t1:c.303+97G>A
NP_116179.2:n.303+97G>A
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