Canonical Allele Identifier: CA386981123

Gene: ORAI1

Linked Data

• dbSNP Id: rs2136842126
• MyVariant Identifiers: chr12:g.122064925G>A (hg19) ; chr12:g.121627019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627019G>A , CM000674.2:g.121627019G>A	GRCh38
NC_000012.11:g.122064925G>A , CM000674.1:g.122064925G>A	GRCh37
NC_000012.10:g.120549308G>A	NCBI36
NG_007500.1:g.5445G>A , LRG_93:g.5445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+86G>A
ENST00000617316.2:c.272G>A	ENSP00000482568.2:p.Arg91Gln
ENST00000646827.1:n.470G>A
ENST00000611718.1:c.83G>A	ENSP00000477953.1:p.Arg28Gln
ENST00000616379.1:c.272G>A	ENSP00000480616.1:p.Arg91Gln
ENST00000617316.1:c.83G>A	ENSP00000482568.1:p.Arg28Gln
NM_032790.3:c.272G>A , LRG_93t1:c.272G>A	NP_116179.2:p.Arg91Gln