Canonical Allele Identifier: CA482433232
Gene: ORAI1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122064932G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627026G>A , CM000674.2:g.121627026G>A GRCh38
NC_000012.11:g.122064932G>A , CM000674.1:g.122064932G>A GRCh37
NC_000012.10:g.120549315G>A NCBI36
NG_007500.1:g.5452G>A , LRG_93:g.5452G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+93G>A
ENST00000617316.2:c.279G>A ENSP00000482568.2:p.Ser93=
ENST00000646827.1:n.477G>A
ENST00000611718.1:c.90G>A ENSP00000477953.1:p.Ser30=
ENST00000616379.1:c.279G>A ENSP00000480616.1:p.Ser93=
ENST00000617316.1:c.90G>A ENSP00000482568.1:p.Ser30=
NM_032790.3:c.279G>A , LRG_93t1:c.279G>A NP_116179.2:p.Ser93=