Canonical Allele Identifier: CA2391566368
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288847C= , CM000683.2:g.44288847C= GRCh38
NC_000021.8:g.45708730C= , CM000683.1:g.45708730C= GRCh37
NC_000021.7:g.44533158C= NCBI36
NG_009556.1:g.7968C= , LRG_18:g.7968C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+389C= MANE Select ENSP00000291582.5:n.652+389C=
ENST00000291582.5:c.652+389C= ENSP00000291582.5:n.652+389C=
ENST00000527919.5:n.1197-381C=
ENST00000530812.5:n.1593C=
NM_000383.3:c.652+389C= NP_000374.1:n.652+389C=
XM_011529551.1:c.652+389C= XP_011527853.1:n.652+389C=
NM_000383.4:c.652+389C= MANE Select NP_000374.1:n.652+389C=
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