Canonical Allele Identifier: CA10051785
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs201720315
ExAC: 21:45710700 T / C
gnomAD v2: 21-45710700-T-C
gnomAD v3: 21-44290817-T-C
gnomAD v4: 21-44290817-T-C
MyVariant Identifiers: chr21:g.45710700T>C (hg19) chr21:g.44290817T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290817T>C , CM000683.2:g.44290817T>C GRCh38
NC_000021.8:g.45710700T>C , CM000683.1:g.45710700T>C GRCh37
NC_000021.7:g.44535128T>C NCBI36
NG_009556.1:g.9938T>C , LRG_18:g.9938T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-278T>C MANE Select ENSP00000291582.5:n.880-278T>C
ENST00000291582.5:c.880-278T>C ENSP00000291582.5:n.880-278T>C
ENST00000337909.5:n.63T>C
ENST00000397994.8:n.63T>C
ENST00000527919.5:n.1613-281T>C
ENST00000530812.5:n.2630-281T>C
NM_000383.3:c.880-278T>C NP_000374.1:n.880-278T>C
XM_011529551.1:c.880-281T>C XP_011527853.1:n.880-281T>C
NM_000383.4:c.880-278T>C MANE Select NP_000374.1:n.880-278T>C
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