Canonical Allele Identifier: CA244608676

Gene: ORAI1

Linked Data

• dbSNP Id: rs1017772703
• gnomAD v4: 12-121627139-G-C
• MyVariant Identifiers: chr12:g.122065045G>C (hg19) ; chr12:g.121627139G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627139G>C , CM000674.2:g.121627139G>C	GRCh38
NC_000012.11:g.122065045G>C , CM000674.1:g.122065045G>C	GRCh37
NC_000012.10:g.120549428G>C	NCBI36
NG_007500.1:g.5565G>C , LRG_93:g.5565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+206G>C
ENST00000617316.2:c.303+89G>C	ENSP00000482568.2:n.303+89G>C
ENST00000646827.1:n.501+89G>C
ENST00000611718.1:c.203G>C	ENSP00000477953.1:p.Arg68Pro
ENST00000616379.1:c.303+89G>C	ENSP00000480616.1:n.303+89G>C
ENST00000617316.1:c.114+89G>C	ENSP00000482568.1:n.114+89G>C
NM_032790.3:c.303+89G>C , LRG_93t1:c.303+89G>C	NP_116179.2:n.303+89G>C