Canonical Allele Identifier: CA482433238
Gene: ORAI1 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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