Canonical Allele Identifier: CA2391565394
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287013C= , CM000683.2:g.44287013C= GRCh38
NC_000021.8:g.45706896C= , CM000683.1:g.45706896C= GRCh37
NC_000021.7:g.44531324C= NCBI36
NG_009556.1:g.6134C= , LRG_18:g.6134C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.343C= MANE Select ENSP00000291582.5:p.Pro115=
ENST00000291582.5:c.343C= ENSP00000291582.5:p.Pro115=
ENST00000527919.5:n.504C=
ENST00000530812.5:n.512C=
NM_000383.3:c.343C= NP_000374.1:p.Pro115=
XM_011529551.1:c.343C= XP_011527853.1:p.Pro115=
NM_000383.4:c.343C= MANE Select NP_000374.1:p.Pro115=
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