Canonical Allele Identifier: CA684499146
Gene: ORAI1 HGNC NCBI

Linked Data

dbSNP Id: rs1252506583
MyVariant Identifiers: chr12:g.121627200T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627200T>C , CM000674.2:g.121627200T>C GRCh38
NC_000012.11:g.122065106T>C , CM000674.1:g.122065106T>C GRCh37
NC_000012.10:g.120549489T>C NCBI36
NG_007500.1:g.5626T>C , LRG_93:g.5626T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+267T>C
ENST00000617316.2:c.303+150T>C ENSP00000482568.2:n.303+150T>C
ENST00000646827.1:n.501+150T>C
ENST00000611718.1:c.238+26T>C ENSP00000477953.1:n.238+26T>C
ENST00000616379.1:c.303+150T>C ENSP00000480616.1:n.303+150T>C
ENST00000617316.1:c.114+150T>C ENSP00000482568.1:n.114+150T>C
NM_032790.3:c.303+150T>C , LRG_93t1:c.303+150T>C NP_116179.2:n.303+150T>C