Canonical Allele Identifier: CA512491351
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44291197-C-A
MyVariant Identifiers: chr21:g.45711080C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291197C>A , CM000683.2:g.44291197C>A GRCh38
NC_000021.8:g.45711080C>A , CM000683.1:g.45711080C>A GRCh37
NC_000021.7:g.44535508C>A NCBI36
NG_009556.1:g.10318C>A , LRG_18:g.10318C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.982C>A MANE Select ENSP00000291582.5:p.Arg328=
ENST00000291582.5:c.982C>A ENSP00000291582.5:p.Arg328=
ENST00000337909.5:n.443C>A
ENST00000397994.8:n.443C>A
ENST00000527919.5:n.1712C>A
ENST00000530812.5:n.2729C>A
NM_000383.3:c.982C>A NP_000374.1:p.Arg328=
XM_011529551.1:c.979C>A XP_011527853.1:p.Arg327=
NM_000383.4:c.982C>A MANE Select NP_000374.1:p.Arg328=
Search 100 bp 5'
Search 100 bp 3'