Canonical Allele Identifier: CA386981025

Gene: ORAI1

Linked Data

• MyVariant Identifiers: chr12:g.121626982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121626982C>G , CM000674.2:g.121626982C>G	GRCh38
NC_000012.10:g.120549271C>G	NCBI36
NG_007500.1:g.5408C>G , LRG_93:g.5408C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+49C>G
ENST00000617316.2:c.235C>G	ENSP00000482568.2:p.Leu79Val
ENST00000646827.1:n.433C>G
ENST00000611718.1:c.46C>G	ENSP00000477953.1:p.Leu16Val
ENST00000616379.1:c.235C>G	ENSP00000480616.1:p.Leu79Val
ENST00000617316.1:c.46C>G	ENSP00000482568.1:p.Leu16Val
NM_032790.3:c.235C>G , LRG_93t1:c.235C>G	NP_116179.2:p.Leu79Val