Canonical Allele Identifier: CA2654793872
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44291050-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291050C>G , CM000683.2:g.44291050C>G GRCh38
NC_000021.8:g.45710933C>G , CM000683.1:g.45710933C>G GRCh37
NC_000021.7:g.44535361C>G NCBI36
NG_009556.1:g.10171C>G , LRG_18:g.10171C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-45C>G MANE Select ENSP00000291582.5:n.880-45C>G
ENST00000291582.5:c.880-45C>G ENSP00000291582.5:n.880-45C>G
ENST00000337909.5:n.296C>G
ENST00000397994.8:n.296C>G
ENST00000527919.5:n.1613-48C>G
ENST00000530812.5:n.2630-48C>G
NM_000383.3:c.880-45C>G NP_000374.1:n.880-45C>G
XM_011529551.1:c.880-48C>G XP_011527853.1:n.880-48C>G
NM_000383.4:c.880-45C>G MANE Select NP_000374.1:n.880-45C>G
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