Canonical Allele Identifier: CA6837446

Gene: ORAI1

Linked Data

• ExAC: 12:122064994 C / T
• gnomAD v2: 12-122064994-C-T
• gnomAD v4: 12-121627088-C-T
• MyVariant Identifiers: chr12:g.122064994C>T (hg19) ; chr12:g.121627088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627088C>T , CM000674.2:g.121627088C>T	GRCh38
NC_000012.11:g.122064994C>T , CM000674.1:g.122064994C>T	GRCh37
NC_000012.10:g.120549377C>T	NCBI36
NG_007500.1:g.5514C>T , LRG_93:g.5514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+155C>T
ENST00000617316.2:c.303+38C>T	ENSP00000482568.2:n.303+38C>T
ENST00000646827.1:n.501+38C>T
ENST00000611718.1:c.152C>T	ENSP00000477953.1:p.Ser51Phe
ENST00000616379.1:c.303+38C>T	ENSP00000480616.1:n.303+38C>T
ENST00000617316.1:c.114+38C>T	ENSP00000482568.1:n.114+38C>T
NM_032790.3:c.303+38C>T , LRG_93t1:c.303+38C>T	NP_116179.2:n.303+38C>T