Canonical Allele Identifier: CA386981156

Gene: ORAI1

Linked Data

• MyVariant Identifiers: chr12:g.122064933G>T (hg19) ; chr12:g.121627027G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627027G>T , CM000674.2:g.121627027G>T	GRCh38
NC_000012.11:g.122064933G>T , CM000674.1:g.122064933G>T	GRCh37
NC_000012.10:g.120549316G>T	NCBI36
NG_007500.1:g.5453G>T , LRG_93:g.5453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+94G>T
ENST00000617316.2:c.280G>T	ENSP00000482568.2:p.Ala94Ser
ENST00000646827.1:n.478G>T
ENST00000611718.1:c.91G>T	ENSP00000477953.1:p.Ala31Ser
ENST00000616379.1:c.280G>T	ENSP00000480616.1:p.Ala94Ser
ENST00000617316.1:c.91G>T	ENSP00000482568.1:p.Ala31Ser
NM_032790.3:c.280G>T , LRG_93t1:c.280G>T	NP_116179.2:p.Ala94Ser