Canonical Allele Identifier: CA2654790587
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44292408-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292408C>T , CM000683.2:g.44292408C>T GRCh38
NC_000021.8:g.45712291C>T , CM000683.1:g.45712291C>T GRCh37
NC_000021.7:g.44536719C>T NCBI36
NG_009556.1:g.11529C>T , LRG_18:g.11529C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1095+7C>T MANE Select ENSP00000291582.5:n.1095+7C>T
ENST00000291582.5:c.1095+7C>T ENSP00000291582.5:n.1095+7C>T
ENST00000337909.5:n.556+7C>T
ENST00000397994.8:n.556+7C>T
ENST00000527919.5:n.1825+7C>T
ENST00000530812.5:n.2842+7C>T
NM_000383.3:c.1095+7C>T NP_000374.1:n.1095+7C>T
XM_011529551.1:c.1092+7C>T XP_011527853.1:n.1092+7C>T
NM_000383.4:c.1095+7C>T MANE Select NP_000374.1:n.1095+7C>T
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