Canonical Allele Identifier: CA386980910

Gene: ORAI1

Linked Data

• dbSNP Id: rs1555322571
• gnomAD v4: 12-121626931-G-T
• MyVariant Identifiers: chr12:g.121626931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121626931G>T , CM000674.2:g.121626931G>T	GRCh38
NC_000012.10:g.120549220G>T	NCBI36
NG_007500.1:g.5357G>T , LRG_93:g.5357G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.423G>T
ENST00000617316.2:c.184G>T	ENSP00000482568.2:p.Glu62Ter
ENST00000646827.1:n.382G>T
ENST00000611718.1:c.-6G>T	ENSP00000477953.1:n.-6G>T
ENST00000616379.1:c.184G>T	ENSP00000480616.1:p.Glu62Ter
ENST00000617316.1:c.-6G>T	ENSP00000482568.1:n.-6G>T
NM_032790.3:c.184G>T , LRG_93t1:c.184G>T	NP_116179.2:p.Glu62Ter