Canonical Allele Identifier: CA386981084

Gene: ORAI1

Linked Data

• MyVariant Identifiers: chr12:g.122064914A>T (hg19) ; chr12:g.121627008A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627008A>T , CM000674.2:g.121627008A>T	GRCh38
NC_000012.11:g.122064914A>T , CM000674.1:g.122064914A>T	GRCh37
NC_000012.10:g.120549297A>T	NCBI36
NG_007500.1:g.5434A>T , LRG_93:g.5434A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+75A>T
ENST00000617316.2:c.261A>T	ENSP00000482568.2:p.Lys87Asn
ENST00000646827.1:n.459A>T
ENST00000611718.1:c.72A>T	ENSP00000477953.1:p.Lys24Asn
ENST00000616379.1:c.261A>T	ENSP00000480616.1:p.Lys87Asn
ENST00000617316.1:c.72A>T	ENSP00000482568.1:p.Lys24Asn
NM_032790.3:c.261A>T , LRG_93t1:c.261A>T	NP_116179.2:p.Lys87Asn