Canonical Allele Identifier: CA386981028

Gene: ORAI1

Linked Data

• MyVariant Identifiers: chr12:g.121626983T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121626983T>C , CM000674.2:g.121626983T>C	GRCh38
NC_000012.10:g.120549272T>C	NCBI36
NG_007500.1:g.5409T>C , LRG_93:g.5409T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+50T>C
ENST00000617316.2:c.236T>C	ENSP00000482568.2:p.Leu79Pro
ENST00000646827.1:n.434T>C
ENST00000611718.1:c.47T>C	ENSP00000477953.1:p.Leu16Pro
ENST00000616379.1:c.236T>C	ENSP00000480616.1:p.Leu79Pro
ENST00000617316.1:c.47T>C	ENSP00000482568.1:p.Leu16Pro
NM_032790.3:c.236T>C , LRG_93t1:c.236T>C	NP_116179.2:p.Leu79Pro