Canonical Allele Identifier: CA2654792194
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44289850-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289850C>A , CM000683.2:g.44289850C>A GRCh38
NC_000021.8:g.45709733C>A , CM000683.1:g.45709733C>A GRCh37
NC_000021.7:g.44534161C>A NCBI36
NG_009556.1:g.8971C>A , LRG_18:g.8971C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.798+48C>A MANE Select ENSP00000291582.5:n.798+48C>A
ENST00000291582.5:c.798+48C>A ENSP00000291582.5:n.798+48C>A
ENST00000527919.5:n.1531+48C>A
ENST00000530812.5:n.2548+48C>A
NM_000383.3:c.798+48C>A NP_000374.1:n.798+48C>A
XM_011529551.1:c.798+48C>A XP_011527853.1:n.798+48C>A
NM_000383.4:c.798+48C>A MANE Select NP_000374.1:n.798+48C>A
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