Canonical Allele Identifier: CA10051600
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 753234
ClinVar RCV Id: RCV000930453
dbSNP Id: rs575144370
ExAC: 21:45707481 G / A
gnomAD v2: 21-45707481-G-A
gnomAD v3: 21-44287598-G-A
gnomAD v4: 21-44287598-G-A
MyVariant Identifiers: chr21:g.45707481G>A (hg19) chr21:g.44287598G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287598G>A , CM000683.2:g.44287598G>A GRCh38
NC_000021.8:g.45707481G>A , CM000683.1:g.45707481G>A GRCh37
NC_000021.7:g.44531909G>A NCBI36
NG_009556.1:g.6719G>A , LRG_18:g.6719G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.538+7G>A MANE Select ENSP00000291582.5:n.538+7G>A
ENST00000291582.5:c.538+7G>A ENSP00000291582.5:n.538+7G>A
ENST00000527919.5:n.1082+7G>A
ENST00000530812.5:n.1090+7G>A
NM_000383.3:c.538+7G>A NP_000374.1:n.538+7G>A
XM_011529551.1:c.538+7G>A XP_011527853.1:n.538+7G>A
NM_000383.4:c.538+7G>A MANE Select NP_000374.1:n.538+7G>A
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