Canonical Allele Identifier: CA386981153

Gene: ORAI1

Linked Data

• gnomAD v4: 12-121627027-G-A
• MyVariant Identifiers: chr12:g.122064933G>A (hg19) ; chr12:g.121627027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627027G>A , CM000674.2:g.121627027G>A	GRCh38
NC_000012.11:g.122064933G>A , CM000674.1:g.122064933G>A	GRCh37
NC_000012.10:g.120549316G>A	NCBI36
NG_007500.1:g.5453G>A , LRG_93:g.5453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+94G>A
ENST00000617316.2:c.280G>A	ENSP00000482568.2:p.Ala94Thr
ENST00000646827.1:n.478G>A
ENST00000611718.1:c.91G>A	ENSP00000477953.1:p.Ala31Thr
ENST00000616379.1:c.280G>A	ENSP00000480616.1:p.Ala94Thr
ENST00000617316.1:c.91G>A	ENSP00000482568.1:p.Ala31Thr
NM_032790.3:c.280G>A , LRG_93t1:c.280G>A	NP_116179.2:p.Ala94Thr