Canonical Allele Identifier: CA2391565571
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040492795
gnomAD v4: 21-44287323-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287323G>T , CM000683.2:g.44287323G>T GRCh38
NC_000021.8:g.45707206G>T , CM000683.1:g.45707206G>T GRCh37
NC_000021.7:g.44531634G>T NCBI36
NG_009556.1:g.6444G>T , LRG_18:g.6444G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+190G>T MANE Select ENSP00000291582.5:n.463+190G>T
ENST00000291582.5:c.463+190G>T ENSP00000291582.5:n.463+190G>T
ENST00000527919.5:n.814G>T
ENST00000530812.5:n.822G>T
NM_000383.3:c.463+190G>T NP_000374.1:n.463+190G>T
XM_011529551.1:c.463+190G>T XP_011527853.1:n.463+190G>T
NM_000383.4:c.463+190G>T MANE Select NP_000374.1:n.463+190G>T
Search 100 bp 5'
Search 100 bp 3'