Canonical Allele Identifier: CA10051781
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1229719
ClinVar RCV Id: RCV001612067
dbSNP Id: rs2073611
ExAC: 21:45710681 G / A
gnomAD v2: 21-45710681-G-A
gnomAD v3: 21-44290798-G-A
gnomAD v4: 21-44290798-G-A
MyVariant Identifiers: chr21:g.45710681G>A (hg19) chr21:g.44290798G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290798G>A , CM000683.2:g.44290798G>A GRCh38
NC_000021.8:g.45710681G>A , CM000683.1:g.45710681G>A GRCh37
NC_000021.7:g.44535109G>A NCBI36
NG_009556.1:g.9919G>A , LRG_18:g.9919G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-297G>A MANE Select ENSP00000291582.5:n.880-297G>A
ENST00000291582.5:c.880-297G>A ENSP00000291582.5:n.880-297G>A
ENST00000337909.5:n.44G>A
ENST00000397994.8:n.44G>A
ENST00000527919.5:n.1613-300G>A
ENST00000530812.5:n.2630-300G>A
NM_000383.3:c.880-297G>A NP_000374.1:n.880-297G>A
XM_011529551.1:c.880-300G>A XP_011527853.1:n.880-300G>A
NM_000383.4:c.880-297G>A MANE Select NP_000374.1:n.880-297G>A
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