Canonical Allele Identifier: CA244608719

Gene: ORAI1

Linked Data

• dbSNP Id: rs979936776
• gnomAD v3: 12-121627216-T-G
• gnomAD v4: 12-121627216-T-G
• MyVariant Identifiers: chr12:g.121627216T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627216T>G , CM000674.2:g.121627216T>G	GRCh38
NC_000012.11:g.122065122T>G , CM000674.1:g.122065122T>G	GRCh37
NC_000012.10:g.120549505T>G	NCBI36
NG_007500.1:g.5642T>G , LRG_93:g.5642T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+283T>G
ENST00000617316.2:c.303+166T>G	ENSP00000482568.2:n.303+166T>G
ENST00000646827.1:n.501+166T>G
ENST00000611718.1:c.238+42T>G	ENSP00000477953.1:n.238+42T>G
ENST00000616379.1:c.303+166T>G	ENSP00000480616.1:n.303+166T>G
ENST00000617316.1:c.114+166T>G	ENSP00000482568.1:n.114+166T>G
NM_032790.3:c.303+166T>G , LRG_93t1:c.303+166T>G	NP_116179.2:n.303+166T>G