Canonical Allele Identifier: CA386981209
Gene: ORAI1 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627037C>G , CM000674.2:g.121627037C>G GRCh38
NC_000012.11:g.122064943C>G , CM000674.1:g.122064943C>G GRCh37
NC_000012.10:g.120549326C>G NCBI36
NG_007500.1:g.5463C>G , LRG_93:g.5463C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+104C>G
ENST00000617316.2:c.290C>G ENSP00000482568.2:p.Ser97Cys
ENST00000646827.1:n.488C>G
ENST00000611718.1:c.101C>G ENSP00000477953.1:p.Ser34Cys
ENST00000616379.1:c.290C>G ENSP00000480616.1:p.Ser97Cys
ENST00000617316.1:c.101C>G ENSP00000482568.1:p.Ser34Cys
NM_032790.3:c.290C>G , LRG_93t1:c.290C>G NP_116179.2:p.Ser97Cys