Canonical Allele Identifier: CA2654793663
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44290807-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290807A>C , CM000683.2:g.44290807A>C GRCh38
NC_000021.8:g.45710690A>C , CM000683.1:g.45710690A>C GRCh37
NC_000021.7:g.44535118A>C NCBI36
NG_009556.1:g.9928A>C , LRG_18:g.9928A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-288A>C MANE Select ENSP00000291582.5:n.880-288A>C
ENST00000291582.5:c.880-288A>C ENSP00000291582.5:n.880-288A>C
ENST00000337909.5:n.53A>C
ENST00000397994.8:n.53A>C
ENST00000527919.5:n.1613-291A>C
ENST00000530812.5:n.2630-291A>C
NM_000383.3:c.880-288A>C NP_000374.1:n.880-288A>C
XM_011529551.1:c.880-291A>C XP_011527853.1:n.880-291A>C
NM_000383.4:c.880-288A>C MANE Select NP_000374.1:n.880-288A>C
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