Canonical Allele Identifier: CA2654789881
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2975035
ClinVar RCV Id: RCV003830641
gnomAD v4: 21-44288476-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288476G>A , CM000683.2:g.44288476G>A GRCh38
NC_000021.8:g.45708359G>A , CM000683.1:g.45708359G>A GRCh37
NC_000021.7:g.44532787G>A NCBI36
NG_009556.1:g.7597G>A , LRG_18:g.7597G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.652+18G>A MANE Select ENSP00000291582.5:n.652+18G>A
ENST00000291582.5:c.652+18G>A ENSP00000291582.5:n.652+18G>A
ENST00000527919.5:n.1196+18G>A
ENST00000530812.5:n.1222G>A
NM_000383.3:c.652+18G>A NP_000374.1:n.652+18G>A
XM_011529551.1:c.652+18G>A XP_011527853.1:n.652+18G>A
NM_000383.4:c.652+18G>A MANE Select NP_000374.1:n.652+18G>A
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