Canonical Allele Identifier: CA386980989
Gene: ORAI1 HGNC NCBI

Linked Data

dbSNP Id: rs1892793956
MyVariant Identifiers: chr12:g.121626964G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121626964G>T , CM000674.2:g.121626964G>T GRCh38
NC_000012.10:g.120549253G>T NCBI36
NG_007500.1:g.5390G>T , LRG_93:g.5390G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+31G>T
ENST00000617316.2:c.217G>T ENSP00000482568.2:p.Ala73Ser
ENST00000646827.1:n.415G>T
ENST00000611718.1:c.28G>T ENSP00000477953.1:p.Ala10Ser
ENST00000616379.1:c.217G>T ENSP00000480616.1:p.Ala73Ser
ENST00000617316.1:c.28G>T ENSP00000482568.1:p.Ala10Ser
NM_032790.3:c.217G>T , LRG_93t1:c.217G>T NP_116179.2:p.Ala73Ser