ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA386981209
Gene: ORAI1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.121627037C>G
GRCh37
chr12:g.122064943C>G
Revel Score:
ENST00000330079
0.657
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000509049
ClinVar Variation:
440860
dbSNP:
1555322610
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121627037C>G , CM000674.2:g.121627037C>G
GRCh38
NC_000012.11:g.122064943C>G , CM000674.1:g.122064943C>G
GRCh37
NC_000012.10:g.120549326C>G
NCBI36
NG_007500.1:g.5463C>G , LRG_93:g.5463C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698901.1:n.425+104C>G
ENST00000617316.2:c.290C>G
ENSP00000482568.2:p.Ser97Cys
ENST00000646827.1:n.488C>G
ENST00000611718.1:c.101C>G
ENSP00000477953.1:p.Ser34Cys
ENST00000616379.1:c.290C>G
ENSP00000480616.1:p.Ser97Cys
ENST00000617316.1:c.101C>G
ENSP00000482568.1:p.Ser34Cys
NM_032790.3:c.290C>G , LRG_93t1:c.290C>G
NP_116179.2:p.Ser97Cys
Search 100 bp 5'
Search 100 bp 3'