Canonical Allele Identifier: CA386981190

Gene: ORAI1

Linked Data

• MyVariant Identifiers: chr12:g.122064940T>G (hg19) ; chr12:g.121627034T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627034T>G , CM000674.2:g.121627034T>G	GRCh38
NC_000012.11:g.122064940T>G , CM000674.1:g.122064940T>G	GRCh37
NC_000012.10:g.120549323T>G	NCBI36
NG_007500.1:g.5460T>G , LRG_93:g.5460T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+101T>G
ENST00000617316.2:c.287T>G	ENSP00000482568.2:p.Leu96Arg
ENST00000646827.1:n.485T>G
ENST00000611718.1:c.98T>G	ENSP00000477953.1:p.Leu33Arg
ENST00000616379.1:c.287T>G	ENSP00000480616.1:p.Leu96Arg
ENST00000617316.1:c.98T>G	ENSP00000482568.1:p.Leu33Arg
NM_032790.3:c.287T>G , LRG_93t1:c.287T>G	NP_116179.2:p.Leu96Arg