Canonical Allele Identifier: CA1022714180
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs938495466
gnomAD v3: 21-44287471-C-A
gnomAD v4: 21-44287471-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287471C>A , CM000683.2:g.44287471C>A GRCh38
NC_000021.8:g.45707354C>A , CM000683.1:g.45707354C>A GRCh37
NC_000021.7:g.44531782C>A NCBI36
NG_009556.1:g.6592C>A , LRG_18:g.6592C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.464-46C>A MANE Select ENSP00000291582.5:n.464-46C>A
ENST00000291582.5:c.464-46C>A ENSP00000291582.5:n.464-46C>A
ENST00000527919.5:n.962C>A
ENST00000530812.5:n.970C>A
NM_000383.3:c.464-46C>A NP_000374.1:n.464-46C>A
XM_011529551.1:c.464-46C>A XP_011527853.1:n.464-46C>A
NM_000383.4:c.464-46C>A MANE Select NP_000374.1:n.464-46C>A
Search 100 bp 5'
Search 100 bp 3'