Canonical Allele Identifier: CA2654796165
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44296285-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296285T>C , CM000683.2:g.44296285T>C GRCh38
NC_000021.8:g.45716168T>C , CM000683.1:g.45716168T>C GRCh37
NC_000021.7:g.44540596T>C NCBI36
NG_009556.1:g.15406T>C , LRG_18:g.15406T>C
NG_034033.1:g.1252T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1504-98T>C MANE Select ENSP00000291582.5:n.1504-98T>C
ENST00000291582.5:c.1504-98T>C ENSP00000291582.5:n.1504-98T>C
ENST00000337909.5:n.965-98T>C
ENST00000397994.8:n.883-98T>C
ENST00000527919.5:n.2263-98T>C
ENST00000530812.5:n.3251-98T>C
NM_000383.3:c.1504-98T>C NP_000374.1:n.1504-98T>C
XM_011529551.1:c.1501-98T>C XP_011527853.1:n.1501-98T>C
NM_000383.4:c.1504-98T>C MANE Select NP_000374.1:n.1504-98T>C
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