Canonical Allele Identifier: CA14898796
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1223195
ClinVar RCV Id: RCV001596135
dbSNP Id: rs28408186
gnomAD v2: 21-45716135-G-A
gnomAD v3: 21-44296252-G-A
gnomAD v4: 21-44296252-G-A
MyVariant Identifiers: chr21:g.45716135G>A (hg19) chr21:g.44296252G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296252G>A , CM000683.2:g.44296252G>A GRCh38
NC_000021.8:g.45716135G>A , CM000683.1:g.45716135G>A GRCh37
NC_000021.7:g.44540563G>A NCBI36
NG_009556.1:g.15373G>A , LRG_18:g.15373G>A
NG_034033.1:g.1219G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1504-131G>A MANE Select ENSP00000291582.5:n.1504-131G>A
ENST00000291582.5:c.1504-131G>A ENSP00000291582.5:n.1504-131G>A
ENST00000337909.5:n.965-131G>A
ENST00000397994.8:n.883-131G>A
ENST00000527919.5:n.2263-131G>A
ENST00000530812.5:n.3251-131G>A
NM_000383.3:c.1504-131G>A NP_000374.1:n.1504-131G>A
XM_011529551.1:c.1501-131G>A XP_011527853.1:n.1501-131G>A
NM_000383.4:c.1504-131G>A MANE Select NP_000374.1:n.1504-131G>A
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