Canonical Allele Identifier: CA244608745

Gene: ORAI1

Linked Data

• dbSNP Id: rs919242645
• gnomAD v2: 12-122065171-G-T
• gnomAD v3: 12-121627265-G-T
• gnomAD v4: 12-121627265-G-T
• MyVariant Identifiers: chr12:g.122065171G>T (hg19) ; chr12:g.121627265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627265G>T , CM000674.2:g.121627265G>T	GRCh38
NC_000012.11:g.122065171G>T , CM000674.1:g.122065171G>T	GRCh37
NC_000012.10:g.120549554G>T	NCBI36
NG_007500.1:g.5691G>T , LRG_93:g.5691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+332G>T
ENST00000617316.2:c.303+215G>T	ENSP00000482568.2:n.303+215G>T
ENST00000646827.1:n.501+215G>T
ENST00000611718.1:c.238+91G>T	ENSP00000477953.1:n.238+91G>T
ENST00000616379.1:c.303+215G>T	ENSP00000480616.1:n.303+215G>T
ENST00000617316.1:c.114+215G>T	ENSP00000482568.1:n.114+215G>T
NM_032790.3:c.303+215G>T , LRG_93t1:c.303+215G>T	NP_116179.2:n.303+215G>T