Canonical Allele Identifier: CA2654793029
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44290217-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290217C>G , CM000683.2:g.44290217C>G GRCh38
NC_000021.8:g.45710100C>G , CM000683.1:g.45710100C>G GRCh37
NC_000021.7:g.44534528C>G NCBI36
NG_009556.1:g.9338C>G , LRG_18:g.9338C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+149C>G MANE Select ENSP00000291582.5:n.879+149C>G
ENST00000291582.5:c.879+149C>G ENSP00000291582.5:n.879+149C>G
ENST00000527919.5:n.1612+149C>G
ENST00000530812.5:n.2629+149C>G
NM_000383.3:c.879+149C>G NP_000374.1:n.879+149C>G
XM_011529551.1:c.879+149C>G XP_011527853.1:n.879+149C>G
NM_000383.4:c.879+149C>G MANE Select NP_000374.1:n.879+149C>G
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