Canonical Allele Identifier: CA2575325702
Gene: ORAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627059C>G , CM000674.2:g.121627059C>G GRCh38
NC_000012.11:g.122064965C>G , CM000674.1:g.122064965C>G GRCh37
NC_000012.10:g.120549348C>G NCBI36
NG_007500.1:g.5485C>G , LRG_93:g.5485C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+126C>G
ENST00000617316.2:c.303+9C>G ENSP00000482568.2:n.303+9C>G
ENST00000646827.1:n.501+9C>G
ENST00000611718.1:c.123C>G ENSP00000477953.1:p.Ser41=
ENST00000616379.1:c.303+9C>G ENSP00000480616.1:n.303+9C>G
ENST00000617316.1:c.114+9C>G ENSP00000482568.1:n.114+9C>G
NM_032790.3:c.303+9C>G , LRG_93t1:c.303+9C>G NP_116179.2:n.303+9C>G