Canonical Allele Identifier: CA386980933
Gene: ORAI1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121626941G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121626941G>C , CM000674.2:g.121626941G>C GRCh38
NC_000012.10:g.120549230G>C NCBI36
NG_007500.1:g.5367G>C , LRG_93:g.5367G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+8G>C
ENST00000617316.2:c.194G>C ENSP00000482568.2:p.Ser65Thr
ENST00000646827.1:n.392G>C
ENST00000611718.1:c.5G>C ENSP00000477953.1:p.Ser2Thr
ENST00000616379.1:c.194G>C ENSP00000480616.1:p.Ser65Thr
ENST00000617316.1:c.5G>C ENSP00000482568.1:p.Ser2Thr
NM_032790.3:c.194G>C , LRG_93t1:c.194G>C NP_116179.2:p.Ser65Thr