Canonical Allele Identifier: CA2067979331
Gene: ORAI1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627108G= , CM000674.2:g.121627108G= GRCh38
NC_000012.11:g.122065014G= , CM000674.1:g.122065014G= GRCh37
NC_000012.10:g.120549397G= NCBI36
NG_007500.1:g.5534G= , LRG_93:g.5534G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+175G=
ENST00000617316.2:c.303+58G= ENSP00000482568.2:n.303+58G=
ENST00000646827.1:n.501+58G=
ENST00000611718.1:c.172G= ENSP00000477953.1:p.Ala58=
ENST00000616379.1:c.303+58G= ENSP00000480616.1:n.303+58G=
ENST00000617316.1:c.114+58G= ENSP00000482568.1:n.114+58G=
NM_032790.3:c.303+58G= , LRG_93t1:c.303+58G= NP_116179.2:n.303+58G=
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