Canonical Allele Identifier: CA244608704

Gene: ORAI1

Linked Data

• dbSNP Id: rs551687573
• gnomAD v3: 12-121627207-C-T
• gnomAD v4: 12-121627207-C-T
• MyVariant Identifiers: chr12:g.122065113C>T (hg19) ; chr12:g.121627207C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627207C>T , CM000674.2:g.121627207C>T	GRCh38
NC_000012.11:g.122065113C>T , CM000674.1:g.122065113C>T	GRCh37
NC_000012.10:g.120549496C>T	NCBI36
NG_007500.1:g.5633C>T , LRG_93:g.5633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+274C>T
ENST00000617316.2:c.303+157C>T	ENSP00000482568.2:n.303+157C>T
ENST00000646827.1:n.501+157C>T
ENST00000611718.1:c.238+33C>T	ENSP00000477953.1:n.238+33C>T
ENST00000616379.1:c.303+157C>T	ENSP00000480616.1:n.303+157C>T
ENST00000617316.1:c.114+157C>T	ENSP00000482568.1:n.114+157C>T
NM_032790.3:c.303+157C>T , LRG_93t1:c.303+157C>T	NP_116179.2:n.303+157C>T