Canonical Allele Identifier: CA410423203
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1687231
ClinVar RCV Id: RCV002250913
dbSNP Id: rs2146375707
MyVariant Identifiers: chr21:g.45706443A>T (hg19) chr21:g.44286560A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286560A>T , CM000683.2:g.44286560A>T GRCh38
NC_000021.8:g.45706443A>T , CM000683.1:g.45706443A>T GRCh37
NC_000021.7:g.44530871A>T NCBI36
NG_009556.1:g.5681A>T , LRG_18:g.5681A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.136A>T MANE Select ENSP00000291582.5:p.Thr46Ser
ENST00000291582.5:c.136A>T ENSP00000291582.5:p.Thr46Ser
ENST00000527919.5:n.297A>T
ENST00000530812.5:n.305A>T
NM_000383.3:c.136A>T NP_000374.1:p.Thr46Ser
XM_011529551.1:c.136A>T XP_011527853.1:p.Thr46Ser
NM_000383.4:c.136A>T MANE Select NP_000374.1:p.Thr46Ser
Search 100 bp 5'
Search 100 bp 3'