Canonical Allele Identifier: CA6837513
Gene: ORAI1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.121641283C>G
GRCh37 chr12:g.122079189C>G
Revel Score:
ENST00000330079 0.325
ENST00000537188 0.325
gnomAD v2:
12:122079189 C / G
gnomAD v4:
chr12-121641283-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
dbSNP:
3741595
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121641283C>G , CM000674.2:g.121641283C>G GRCh38
NC_000012.11:g.122079189C>G , CM000674.1:g.122079189C>G GRCh37
NC_000012.10:g.120563572C>G NCBI36
NG_007500.1:g.19709C>G , LRG_93:g.19709C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.668C>G
ENST00000617316.2:c.546C>G ENSP00000482568.2:p.Ile182Met
ENST00000646827.1:n.744C>G
ENST00000611718.1:c.*211C>G ENSP00000477953.1:n.*211C>G
ENST00000616379.1:c.546C>G ENSP00000480616.1:p.Ile182Met
ENST00000617316.1:c.357C>G ENSP00000482568.1:p.Ile119Met
NM_032790.3:c.546C>G , LRG_93t1:c.546C>G NP_116179.2:p.Ile182Met
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