Canonical Allele Identifier: CA386981767

Gene: ORAI1

Linked Data

• dbSNP Id: rs1555322654
• gnomAD v2: 12-122065062-A-G
• gnomAD v3: 12-121627156-A-G
• gnomAD v4: 12-121627156-A-G
• MyVariant Identifiers: chr12:g.122065062A>G (hg19) ; chr12:g.121627156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627156A>G , CM000674.2:g.121627156A>G	GRCh38
NC_000012.11:g.122065062A>G , CM000674.1:g.122065062A>G	GRCh37
NC_000012.10:g.120549445A>G	NCBI36
NG_007500.1:g.5582A>G , LRG_93:g.5582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+223A>G
ENST00000617316.2:c.303+106A>G	ENSP00000482568.2:n.303+106A>G
ENST00000646827.1:n.501+106A>G
ENST00000611718.1:c.220A>G	ENSP00000477953.1:p.Arg74Gly
ENST00000616379.1:c.303+106A>G	ENSP00000480616.1:n.303+106A>G
ENST00000617316.1:c.114+106A>G	ENSP00000482568.1:n.114+106A>G
NM_032790.3:c.303+106A>G , LRG_93t1:c.303+106A>G	NP_116179.2:n.303+106A>G