Canonical Allele Identifier: CA2391567393
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1670205316
gnomAD v4: 21-44290864-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290864G>C , CM000683.2:g.44290864G>C GRCh38
NC_000021.8:g.45710747G>C , CM000683.1:g.45710747G>C GRCh37
NC_000021.7:g.44535175G>C NCBI36
NG_009556.1:g.9985G>C , LRG_18:g.9985G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-231G>C MANE Select ENSP00000291582.5:n.880-231G>C
ENST00000291582.5:c.880-231G>C ENSP00000291582.5:n.880-231G>C
ENST00000337909.5:n.110G>C
ENST00000397994.8:n.110G>C
ENST00000527919.5:n.1613-234G>C
ENST00000530812.5:n.2630-234G>C
NM_000383.3:c.880-231G>C NP_000374.1:n.880-231G>C
XM_011529551.1:c.880-234G>C XP_011527853.1:n.880-234G>C
NM_000383.4:c.880-231G>C MANE Select NP_000374.1:n.880-231G>C
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