Canonical Allele Identifier: CA482433243
Gene: ORAI1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122064938G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627032G>T , CM000674.2:g.121627032G>T GRCh38
NC_000012.11:g.122064938G>T , CM000674.1:g.122064938G>T GRCh37
NC_000012.10:g.120549321G>T NCBI36
NG_007500.1:g.5458G>T , LRG_93:g.5458G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+99G>T
ENST00000617316.2:c.285G>T ENSP00000482568.2:p.Leu95=
ENST00000646827.1:n.483G>T
ENST00000611718.1:c.96G>T ENSP00000477953.1:p.Leu32=
ENST00000616379.1:c.285G>T ENSP00000480616.1:p.Leu95=
ENST00000617316.1:c.96G>T ENSP00000482568.1:p.Leu32=
NM_032790.3:c.285G>T , LRG_93t1:c.285G>T NP_116179.2:p.Leu95=
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