Canonical Allele Identifier: CA2391567014
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040520936
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290072A>G , CM000683.2:g.44290072A>G GRCh38
NC_000021.8:g.45709955A>G , CM000683.1:g.45709955A>G GRCh37
NC_000021.7:g.44534383A>G NCBI36
NG_009556.1:g.9193A>G , LRG_18:g.9193A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+4A>G MANE Select ENSP00000291582.5:n.879+4A>G
ENST00000291582.5:c.879+4A>G ENSP00000291582.5:n.879+4A>G
ENST00000527919.5:n.1612+4A>G
ENST00000530812.5:n.2629+4A>G
NM_000383.3:c.879+4A>G NP_000374.1:n.879+4A>G
XM_011529551.1:c.879+4A>G XP_011527853.1:n.879+4A>G
NM_000383.4:c.879+4A>G MANE Select NP_000374.1:n.879+4A>G
Search 100 bp 5'
Search 100 bp 3'