Canonical Allele Identifier: CA244608735

Gene: ORAI1

Linked Data

• dbSNP Id: rs377512148
• gnomAD v2: 12-122065135-G-A
• gnomAD v3: 12-121627229-G-A
• gnomAD v4: 12-121627229-G-A
• MyVariant Identifiers: chr12:g.122065135G>A (hg19) ; chr12:g.121627229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627229G>A , CM000674.2:g.121627229G>A	GRCh38
NC_000012.11:g.122065135G>A , CM000674.1:g.122065135G>A	GRCh37
NC_000012.10:g.120549518G>A	NCBI36
NG_007500.1:g.5655G>A , LRG_93:g.5655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+296G>A
ENST00000617316.2:c.303+179G>A	ENSP00000482568.2:n.303+179G>A
ENST00000646827.1:n.501+179G>A
ENST00000611718.1:c.238+55G>A	ENSP00000477953.1:n.238+55G>A
ENST00000616379.1:c.303+179G>A	ENSP00000480616.1:n.303+179G>A
ENST00000617316.1:c.114+179G>A	ENSP00000482568.1:n.114+179G>A
NM_032790.3:c.303+179G>A , LRG_93t1:c.303+179G>A	NP_116179.2:n.303+179G>A