Canonical Allele Identifier: CA482433236
Gene: ORAI1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122064935T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627029T>A , CM000674.2:g.121627029T>A GRCh38
NC_000012.11:g.122064935T>A , CM000674.1:g.122064935T>A GRCh37
NC_000012.10:g.120549318T>A NCBI36
NG_007500.1:g.5455T>A , LRG_93:g.5455T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+96T>A
ENST00000617316.2:c.282T>A ENSP00000482568.2:p.Ala94=
ENST00000646827.1:n.480T>A
ENST00000611718.1:c.93T>A ENSP00000477953.1:p.Ala31=
ENST00000616379.1:c.282T>A ENSP00000480616.1:p.Ala94=
ENST00000617316.1:c.93T>A ENSP00000482568.1:p.Ala31=
NM_032790.3:c.282T>A , LRG_93t1:c.282T>A NP_116179.2:p.Ala94=