Canonical Allele Identifier: CA684499145

Gene: ORAI1

Linked Data

• dbSNP Id: rs1339682720
• gnomAD v3: 12-121627193-G-A
• gnomAD v4: 12-121627193-G-A
• MyVariant Identifiers: chr12:g.121627193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627193G>A , CM000674.2:g.121627193G>A	GRCh38
NC_000012.11:g.122065099G>A , CM000674.1:g.122065099G>A	GRCh37
NC_000012.10:g.120549482G>A	NCBI36
NG_007500.1:g.5619G>A , LRG_93:g.5619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+260G>A
ENST00000617316.2:c.303+143G>A	ENSP00000482568.2:n.303+143G>A
ENST00000646827.1:n.501+143G>A
ENST00000611718.1:c.238+19G>A	ENSP00000477953.1:n.238+19G>A
ENST00000616379.1:c.303+143G>A	ENSP00000480616.1:n.303+143G>A
ENST00000617316.1:c.114+143G>A	ENSP00000482568.1:n.114+143G>A
NM_032790.3:c.303+143G>A , LRG_93t1:c.303+143G>A	NP_116179.2:n.303+143G>A