Canonical Allele Identifier: CA2654790608
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44292413-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292413C>A , CM000683.2:g.44292413C>A GRCh38
NC_000021.8:g.45712296C>A , CM000683.1:g.45712296C>A GRCh37
NC_000021.7:g.44536724C>A NCBI36
NG_009556.1:g.11534C>A , LRG_18:g.11534C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1095+12C>A MANE Select ENSP00000291582.5:n.1095+12C>A
ENST00000291582.5:c.1095+12C>A ENSP00000291582.5:n.1095+12C>A
ENST00000337909.5:n.556+12C>A
ENST00000397994.8:n.556+12C>A
ENST00000527919.5:n.1825+12C>A
ENST00000530812.5:n.2842+12C>A
NM_000383.3:c.1095+12C>A NP_000374.1:n.1095+12C>A
XM_011529551.1:c.1092+12C>A XP_011527853.1:n.1092+12C>A
NM_000383.4:c.1095+12C>A MANE Select NP_000374.1:n.1095+12C>A
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