Canonical Allele Identifier: CA386981019

Gene: ORAI1

Linked Data

• gnomAD v4: 12-121626980-A-C
• MyVariant Identifiers: chr12:g.121626980A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121626980A>C , CM000674.2:g.121626980A>C	GRCh38
NC_000012.10:g.120549269A>C	NCBI36
NG_007500.1:g.5406A>C , LRG_93:g.5406A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+47A>C
ENST00000617316.2:c.233A>C	ENSP00000482568.2:p.Lys78Thr
ENST00000646827.1:n.431A>C
ENST00000611718.1:c.44A>C	ENSP00000477953.1:p.Lys15Thr
ENST00000616379.1:c.233A>C	ENSP00000480616.1:p.Lys78Thr
ENST00000617316.1:c.44A>C	ENSP00000482568.1:p.Lys15Thr
NM_032790.3:c.233A>C , LRG_93t1:c.233A>C	NP_116179.2:p.Lys78Thr