Canonical Allele Identifier: CA386981461
Gene: ORAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627079C>A , CM000674.2:g.121627079C>A GRCh38
NC_000012.11:g.122064985C>A , CM000674.1:g.122064985C>A GRCh37
NC_000012.10:g.120549368C>A NCBI36
NG_007500.1:g.5505C>A , LRG_93:g.5505C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+146C>A
ENST00000617316.2:c.303+29C>A ENSP00000482568.2:n.303+29C>A
ENST00000646827.1:n.501+29C>A
ENST00000611718.1:c.143C>A ENSP00000477953.1:p.Pro48His
ENST00000616379.1:c.303+29C>A ENSP00000480616.1:n.303+29C>A
ENST00000617316.1:c.114+29C>A ENSP00000482568.1:n.114+29C>A
NM_032790.3:c.303+29C>A , LRG_93t1:c.303+29C>A NP_116179.2:n.303+29C>A