Canonical Allele Identifier: CA386981147

Gene: ORAI1

Linked Data

• MyVariant Identifiers: chr12:g.122064931C>A (hg19) ; chr12:g.121627025C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627025C>A , CM000674.2:g.121627025C>A	GRCh38
NC_000012.11:g.122064931C>A , CM000674.1:g.122064931C>A	GRCh37
NC_000012.10:g.120549314C>A	NCBI36
NG_007500.1:g.5451C>A , LRG_93:g.5451C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+92C>A
ENST00000617316.2:c.278C>A	ENSP00000482568.2:p.Ser93Ter
ENST00000646827.1:n.476C>A
ENST00000611718.1:c.89C>A	ENSP00000477953.1:p.Ser30Ter
ENST00000616379.1:c.278C>A	ENSP00000480616.1:p.Ser93Ter
ENST00000617316.1:c.89C>A	ENSP00000482568.1:p.Ser30Ter
NM_032790.3:c.278C>A , LRG_93t1:c.278C>A	NP_116179.2:p.Ser93Ter