Canonical Allele Identifier: CA10051684
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs772104934
ExAC: 21:45709593 T / C
gnomAD v2: 21-45709593-T-C
gnomAD v4: 21-44289710-T-C
MyVariant Identifiers: chr21:g.45709593T>C (hg19) chr21:g.44289710T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289710T>C , CM000683.2:g.44289710T>C GRCh38
NC_000021.8:g.45709593T>C , CM000683.1:g.45709593T>C GRCh37
NC_000021.7:g.44534021T>C NCBI36
NG_009556.1:g.8831T>C , LRG_18:g.8831T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.706T>C MANE Select ENSP00000291582.5:p.Phe236Leu
ENST00000291582.5:c.706T>C ENSP00000291582.5:p.Phe236Leu
ENST00000527919.5:n.1439T>C
ENST00000530812.5:n.2456T>C
NM_000383.3:c.706T>C NP_000374.1:p.Phe236Leu
XM_011529551.1:c.706T>C XP_011527853.1:p.Phe236Leu
NM_000383.4:c.706T>C MANE Select NP_000374.1:p.Phe236Leu
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