Canonical Allele Identifier: CA2391568199
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292405T= , CM000683.2:g.44292405T= GRCh38
NC_000021.8:g.45712288T= , CM000683.1:g.45712288T= GRCh37
NC_000021.7:g.44536716T= NCBI36
NG_009556.1:g.11526T= , LRG_18:g.11526T=

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1095+4T= MANE Select ENSP00000291582.5:n.1095+4T=
ENST00000291582.5:c.1095+4T= ENSP00000291582.5:n.1095+4T=
ENST00000337909.5:n.556+4T=
ENST00000397994.8:n.556+4T=
ENST00000527919.5:n.1825+4T=
ENST00000530812.5:n.2842+4T=
NM_000383.3:c.1095+4T= NP_000374.1:n.1095+4T=
XM_011529551.1:c.1092+4T= XP_011527853.1:n.1092+4T=
NM_000383.4:c.1095+4T= MANE Select NP_000374.1:n.1095+4T=
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