Canonical Allele Identifier: CA2621442585
Gene: ORAI1 HGNC NCBI

Linked Data

gnomAD v4: 12-121627185-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627185C>G , CM000674.2:g.121627185C>G GRCh38
NC_000012.11:g.122065091C>G , CM000674.1:g.122065091C>G GRCh37
NC_000012.10:g.120549474C>G NCBI36
NG_007500.1:g.5611C>G , LRG_93:g.5611C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+252C>G
ENST00000617316.2:c.303+135C>G ENSP00000482568.2:n.303+135C>G
ENST00000646827.1:n.501+135C>G
ENST00000611718.1:c.238+11C>G ENSP00000477953.1:n.238+11C>G
ENST00000616379.1:c.303+135C>G ENSP00000480616.1:n.303+135C>G
ENST00000617316.1:c.114+135C>G ENSP00000482568.1:n.114+135C>G
NM_032790.3:c.303+135C>G , LRG_93t1:c.303+135C>G NP_116179.2:n.303+135C>G
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