Canonical Allele Identifier: CA2654789888
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44292219-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292219C>G , CM000683.2:g.44292219C>G GRCh38
NC_000021.8:g.45712102C>G , CM000683.1:g.45712102C>G GRCh37
NC_000021.7:g.44536530C>G NCBI36
NG_009556.1:g.11340C>G , LRG_18:g.11340C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.996-83C>G MANE Select ENSP00000291582.5:n.996-83C>G
ENST00000291582.5:c.996-83C>G ENSP00000291582.5:n.996-83C>G
ENST00000337909.5:n.457-83C>G
ENST00000397994.8:n.457-83C>G
ENST00000527919.5:n.1726-83C>G
ENST00000530812.5:n.2743-83C>G
NM_000383.3:c.996-83C>G NP_000374.1:n.996-83C>G
XM_011529551.1:c.993-83C>G XP_011527853.1:n.993-83C>G
NM_000383.4:c.996-83C>G MANE Select NP_000374.1:n.996-83C>G
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