Canonical Allele Identifier: CA684499225

Gene: ORAI1

Linked Data

• dbSNP Id: rs1462564427
• gnomAD v3: 12-121627257-A-T
• gnomAD v4: 12-121627257-A-T
• MyVariant Identifiers: chr12:g.121627257A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627257A>T , CM000674.2:g.121627257A>T	GRCh38
NC_000012.11:g.122065163A>T , CM000674.1:g.122065163A>T	GRCh37
NC_000012.10:g.120549546A>T	NCBI36
NG_007500.1:g.5683A>T , LRG_93:g.5683A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+324A>T
ENST00000617316.2:c.303+207A>T	ENSP00000482568.2:n.303+207A>T
ENST00000646827.1:n.501+207A>T
ENST00000611718.1:c.238+83A>T	ENSP00000477953.1:n.238+83A>T
ENST00000616379.1:c.303+207A>T	ENSP00000480616.1:n.303+207A>T
ENST00000617316.1:c.114+207A>T	ENSP00000482568.1:n.114+207A>T
NM_032790.3:c.303+207A>T , LRG_93t1:c.303+207A>T	NP_116179.2:n.303+207A>T