Canonical Allele Identifier: CA386981513

Gene: ORAI1

Linked Data

• MyVariant Identifiers: chr12:g.122065002C>G (hg19) ; chr12:g.121627096C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627096C>G , CM000674.2:g.121627096C>G	GRCh38
NC_000012.11:g.122065002C>G , CM000674.1:g.122065002C>G	GRCh37
NC_000012.10:g.120549385C>G	NCBI36
NG_007500.1:g.5522C>G , LRG_93:g.5522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+163C>G
ENST00000617316.2:c.303+46C>G	ENSP00000482568.2:n.303+46C>G
ENST00000646827.1:n.501+46C>G
ENST00000611718.1:c.160C>G	ENSP00000477953.1:p.Leu54Val
ENST00000616379.1:c.303+46C>G	ENSP00000480616.1:n.303+46C>G
ENST00000617316.1:c.114+46C>G	ENSP00000482568.1:n.114+46C>G
NM_032790.3:c.303+46C>G , LRG_93t1:c.303+46C>G	NP_116179.2:n.303+46C>G