Canonical Allele Identifier: CA2654796186
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44296296-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296296C>A , CM000683.2:g.44296296C>A GRCh38
NC_000021.8:g.45716179C>A , CM000683.1:g.45716179C>A GRCh37
NC_000021.7:g.44540607C>A NCBI36
NG_009556.1:g.15417C>A , LRG_18:g.15417C>A
NG_034033.1:g.1263C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1504-87C>A MANE Select ENSP00000291582.5:n.1504-87C>A
ENST00000291582.5:c.1504-87C>A ENSP00000291582.5:n.1504-87C>A
ENST00000337909.5:n.965-87C>A
ENST00000397994.8:n.883-87C>A
ENST00000527919.5:n.2263-87C>A
ENST00000530812.5:n.3251-87C>A
NM_000383.3:c.1504-87C>A NP_000374.1:n.1504-87C>A
XM_011529551.1:c.1501-87C>A XP_011527853.1:n.1501-87C>A
NM_000383.4:c.1504-87C>A MANE Select NP_000374.1:n.1504-87C>A
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