Canonical Allele Identifier: CA213503
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 35663
ClinVar RCV Id: RCV001546623 RCV001797591 RCV000029311
dbSNP Id: rs142788946
ExAC: 21:45706895 G / T
gnomAD v2: 21-45706895-G-T
gnomAD v3: 21-44287012-G-T
gnomAD v4: 21-44287012-G-T
MyVariant Identifiers: chr21:g.45706895G>T (hg19) chr21:g.45706895_45706896delinsTC (hg19) chr21:g.44287012G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287012G>T , CM000683.2:g.44287012G>T GRCh38
NC_000021.8:g.45706895G>T , CM000683.1:g.45706895G>T GRCh37
NC_000021.7:g.44531323G>T NCBI36
NG_009556.1:g.6133G>T , LRG_18:g.6133G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.342G>T MANE Select ENSP00000291582.5:p.Lys114Asn
ENST00000291582.5:c.342G>T ENSP00000291582.5:p.Lys114Asn
ENST00000527919.5:n.503G>T
ENST00000530812.5:n.511G>T
NM_000383.3:c.342G>T NP_000374.1:p.Lys114Asn
XM_011529551.1:c.342G>T XP_011527853.1:p.Lys114Asn
NM_000383.4:c.342G>T MANE Select NP_000374.1:p.Lys114Asn
Search 100 bp 5'
Search 100 bp 3'