Canonical Allele Identifier: CA2391568201
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292406G= , CM000683.2:g.44292406G= GRCh38
NC_000021.8:g.45712289G= , CM000683.1:g.45712289G= GRCh37
NC_000021.7:g.44536717G= NCBI36
NG_009556.1:g.11527G= , LRG_18:g.11527G=

Transcript Alleles

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