Canonical Allele Identifier: CA2654796180
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44296292-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296292A>G , CM000683.2:g.44296292A>G GRCh38
NC_000021.8:g.45716175A>G , CM000683.1:g.45716175A>G GRCh37
NC_000021.7:g.44540603A>G NCBI36
NG_009556.1:g.15413A>G , LRG_18:g.15413A>G
NG_034033.1:g.1259A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1504-91A>G MANE Select ENSP00000291582.5:n.1504-91A>G
ENST00000291582.5:c.1504-91A>G ENSP00000291582.5:n.1504-91A>G
ENST00000337909.5:n.965-91A>G
ENST00000397994.8:n.883-91A>G
ENST00000527919.5:n.2263-91A>G
ENST00000530812.5:n.3251-91A>G
NM_000383.3:c.1504-91A>G NP_000374.1:n.1504-91A>G
XM_011529551.1:c.1501-91A>G XP_011527853.1:n.1501-91A>G
NM_000383.4:c.1504-91A>G MANE Select NP_000374.1:n.1504-91A>G
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