Canonical Allele Identifier: CA386981461

Gene: ORAI1

Linked Data

• gnomAD v4: 12-121627079-C-A
• MyVariant Identifiers: chr12:g.122064985C>A (hg19) ; chr12:g.121627079C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627079C>A , CM000674.2:g.121627079C>A	GRCh38
NC_000012.11:g.122064985C>A , CM000674.1:g.122064985C>A	GRCh37
NC_000012.10:g.120549368C>A	NCBI36
NG_007500.1:g.5505C>A , LRG_93:g.5505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+146C>A
ENST00000617316.2:c.303+29C>A	ENSP00000482568.2:n.303+29C>A
ENST00000646827.1:n.501+29C>A
ENST00000611718.1:c.143C>A	ENSP00000477953.1:p.Pro48His
ENST00000616379.1:c.303+29C>A	ENSP00000480616.1:n.303+29C>A
ENST00000617316.1:c.114+29C>A	ENSP00000482568.1:n.114+29C>A
NM_032790.3:c.303+29C>A , LRG_93t1:c.303+29C>A	NP_116179.2:n.303+29C>A