Canonical Allele Identifier: CA386981031

Gene: ORAI1

Linked Data

• MyVariant Identifiers: chr12:g.121626985T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121626985T>A , CM000674.2:g.121626985T>A	GRCh38
NC_000012.10:g.120549274T>A	NCBI36
NG_007500.1:g.5411T>A , LRG_93:g.5411T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+52T>A
ENST00000617316.2:c.238T>A	ENSP00000482568.2:p.Tyr80Asn
ENST00000646827.1:n.436T>A
ENST00000611718.1:c.49T>A	ENSP00000477953.1:p.Tyr17Asn
ENST00000616379.1:c.238T>A	ENSP00000480616.1:p.Tyr80Asn
ENST00000617316.1:c.49T>A	ENSP00000482568.1:p.Tyr17Asn
NM_032790.3:c.238T>A , LRG_93t1:c.238T>A	NP_116179.2:p.Tyr80Asn