Canonical Allele Identifier: CA512491460
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1460519
ClinVar RCV Id: RCV001963328
dbSNP Id: rs1445602810
gnomAD v4: 21-44292305-G-T
MyVariant Identifiers: chr21:g.45712188G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292305G>T , CM000683.2:g.44292305G>T GRCh38
NC_000021.8:g.45712188G>T , CM000683.1:g.45712188G>T GRCh37
NC_000021.7:g.44536616G>T NCBI36
NG_009556.1:g.11426G>T , LRG_18:g.11426G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.999G>T MANE Select ENSP00000291582.5:p.Gly333=
ENST00000291582.5:c.999G>T ENSP00000291582.5:p.Gly333=
ENST00000337909.5:n.460G>T
ENST00000397994.8:n.460G>T
ENST00000527919.5:n.1729G>T
ENST00000530812.5:n.2746G>T
NM_000383.3:c.999G>T NP_000374.1:p.Gly333=
XM_011529551.1:c.996G>T XP_011527853.1:p.Gly332=
NM_000383.4:c.999G>T MANE Select NP_000374.1:p.Gly333=
Search 100 bp 5'
Search 100 bp 3'