Canonical Allele Identifier: CA321788609
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1042009816
gnomAD v3: 21-44288851-A-C
gnomAD v4: 21-44288851-A-C
MyVariant Identifiers: chr21:g.45708734A>C (hg19) chr21:g.44288851A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288851A>C , CM000683.2:g.44288851A>C GRCh38
NC_000021.8:g.45708734A>C , CM000683.1:g.45708734A>C GRCh37
NC_000021.7:g.44533162A>C NCBI36
NG_009556.1:g.7972A>C , LRG_18:g.7972A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+393A>C MANE Select ENSP00000291582.5:n.652+393A>C
ENST00000291582.5:c.652+393A>C ENSP00000291582.5:n.652+393A>C
ENST00000527919.5:n.1197-377A>C
ENST00000530812.5:n.1597A>C
NM_000383.3:c.652+393A>C NP_000374.1:n.652+393A>C
XM_011529551.1:c.652+393A>C XP_011527853.1:n.652+393A>C
NM_000383.4:c.652+393A>C MANE Select NP_000374.1:n.652+393A>C
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