Canonical Allele Identifier: CA512492223
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44294491-T-G
MyVariant Identifiers: chr21:g.45714374T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44294491T>G , CM000683.2:g.44294491T>G GRCh38
NC_000021.8:g.45714374T>G , CM000683.1:g.45714374T>G GRCh37
NC_000021.7:g.44538802T>G NCBI36
NG_009556.1:g.13612T>G , LRG_18:g.13612T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1491T>G MANE Select ENSP00000291582.5:p.Pro497=
ENST00000291582.5:c.1491T>G ENSP00000291582.5:p.Pro497=
ENST00000337909.5:n.952T>G
ENST00000397994.8:n.870T>G
ENST00000527919.5:n.2250T>G
ENST00000530812.5:n.3238T>G
NM_000383.3:c.1491T>G NP_000374.1:p.Pro497=
XM_011529551.1:c.1488T>G XP_011527853.1:p.Pro496=
NM_000383.4:c.1491T>G MANE Select NP_000374.1:p.Pro497=
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