Canonical Allele Identifier: CA1022718064
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1601972186
gnomAD v3: 21-44296479-A-C
gnomAD v4: 21-44296479-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296479A>C , CM000683.2:g.44296479A>C GRCh38
NC_000021.8:g.45716362A>C , CM000683.1:g.45716362A>C GRCh37
NC_000021.7:g.44540790A>C NCBI36
NG_009556.1:g.15600A>C , LRG_18:g.15600A>C
NG_034033.1:g.1446A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1566+34A>C MANE Select ENSP00000291582.5:n.1566+34A>C
ENST00000291582.5:c.1566+34A>C ENSP00000291582.5:n.1566+34A>C
ENST00000337909.5:n.1027+34A>C
ENST00000397994.8:n.945+34A>C
ENST00000527919.5:n.2325+34A>C
ENST00000530812.5:n.3313+34A>C
NM_000383.3:c.1566+34A>C NP_000374.1:n.1566+34A>C
XM_011529551.1:c.1563+34A>C XP_011527853.1:n.1563+34A>C
NM_000383.4:c.1566+34A>C MANE Select NP_000374.1:n.1566+34A>C
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