Canonical Allele Identifier: CA10051656
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs765762534
ExAC: 21:45708360 A / G
gnomAD v2: 21-45708360-A-G
gnomAD v3: 21-44288477-A-G
gnomAD v4: 21-44288477-A-G
MyVariant Identifiers: chr21:g.45708360A>G (hg19) chr21:g.44288477A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288477A>G , CM000683.2:g.44288477A>G GRCh38
NC_000021.8:g.45708360A>G , CM000683.1:g.45708360A>G GRCh37
NC_000021.7:g.44532788A>G NCBI36
NG_009556.1:g.7598A>G , LRG_18:g.7598A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.652+19A>G MANE Select ENSP00000291582.5:n.652+19A>G
ENST00000291582.5:c.652+19A>G ENSP00000291582.5:n.652+19A>G
ENST00000527919.5:n.1196+19A>G
ENST00000530812.5:n.1223A>G
NM_000383.3:c.652+19A>G NP_000374.1:n.652+19A>G
XM_011529551.1:c.652+19A>G XP_011527853.1:n.652+19A>G
NM_000383.4:c.652+19A>G MANE Select NP_000374.1:n.652+19A>G
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