ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA386981508
Gene: ORAI1
HGNC
NCBI
Linked Data
gnomAD v4:
12-121627093-C-A
MyVariant Identifiers:
chr12:g.122064999C>A (hg19)
chr12:g.121627093C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121627093C>A , CM000674.2:g.121627093C>A
GRCh38
NC_000012.11:g.122064999C>A , CM000674.1:g.122064999C>A
GRCh37
NC_000012.10:g.120549382C>A
NCBI36
NG_007500.1:g.5519C>A , LRG_93:g.5519C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698901.1:n.425+160C>A
ENST00000617316.2:c.303+43C>A
ENSP00000482568.2:n.303+43C>A
ENST00000646827.1:n.501+43C>A
ENST00000611718.1:c.157C>A
ENSP00000477953.1:p.Leu53Met
ENST00000616379.1:c.303+43C>A
ENSP00000480616.1:n.303+43C>A
ENST00000617316.1:c.114+43C>A
ENSP00000482568.1:n.114+43C>A
NM_032790.3:c.303+43C>A , LRG_93t1:c.303+43C>A
NP_116179.2:n.303+43C>A
Search 100 bp 5'
Search 100 bp 3'