Canonical Allele Identifier: CA6837431
Gene: ORAI1 HGNC NCBI

Linked Data

dbSNP Id: rs782161466
ExAC: 12:122064944 C / T
gnomAD v2: 12-122064944-C-T
gnomAD v3: 12-121627038-C-T
gnomAD v4: 12-121627038-C-T
MyVariant Identifiers: chr12:g.122064944C>T (hg19) chr12:g.121627038C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627038C>T , CM000674.2:g.121627038C>T GRCh38
NC_000012.11:g.122064944C>T , CM000674.1:g.122064944C>T GRCh37
NC_000012.10:g.120549327C>T NCBI36
NG_007500.1:g.5464C>T , LRG_93:g.5464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+105C>T
ENST00000617316.2:c.291C>T ENSP00000482568.2:p.Ser97=
ENST00000646827.1:n.489C>T
ENST00000611718.1:c.102C>T ENSP00000477953.1:p.Ser34=
ENST00000616379.1:c.291C>T ENSP00000480616.1:p.Ser97=
ENST00000617316.1:c.102C>T ENSP00000482568.1:p.Ser34=
NM_032790.3:c.291C>T , LRG_93t1:c.291C>T NP_116179.2:p.Ser97=
Search 100 bp 5'
Search 100 bp 3'