Canonical Allele Identifier: CA638116150
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1142672
ClinVar RCV Id: RCV001480578
dbSNP Id: rs1161056630
gnomAD v2: 21-45714393-G-T
gnomAD v3: 21-44294510-G-T
gnomAD v4: 21-44294510-G-T
MyVariant Identifiers: chr21:g.45714393G>T (hg19) chr21:g.44294510G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44294510G>T , CM000683.2:g.44294510G>T GRCh38
NC_000021.8:g.45714393G>T , CM000683.1:g.45714393G>T GRCh37
NC_000021.7:g.44538821G>T NCBI36
NG_009556.1:g.13631G>T , LRG_18:g.13631G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1503+7G>T MANE Select ENSP00000291582.5:n.1503+7G>T
ENST00000291582.5:c.1503+7G>T ENSP00000291582.5:n.1503+7G>T
ENST00000337909.5:n.964+7G>T
ENST00000397994.8:n.882+7G>T
ENST00000527919.5:n.2262+7G>T
ENST00000530812.5:n.3250+7G>T
NM_000383.3:c.1503+7G>T NP_000374.1:n.1503+7G>T
XM_011529551.1:c.1500+7G>T XP_011527853.1:n.1500+7G>T
NM_000383.4:c.1503+7G>T MANE Select NP_000374.1:n.1503+7G>T
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