Canonical Allele Identifier: CA645609309
Gene: AIRE HGNC NCBI

Linked Data

COSMIC: COSM1751675
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291069G>A , CM000683.2:g.44291069G>A GRCh38
NC_000021.8:g.45710952G>A , CM000683.1:g.45710952G>A GRCh37
NC_000021.7:g.44535380G>A NCBI36
NG_009556.1:g.10190G>A , LRG_18:g.10190G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-26G>A MANE Select ENSP00000291582.5:n.880-26G>A
ENST00000291582.5:c.880-26G>A ENSP00000291582.5:n.880-26G>A
ENST00000337909.5:n.315G>A
ENST00000397994.8:n.315G>A
ENST00000527919.5:n.1613-29G>A
ENST00000530812.5:n.2630-29G>A
NM_000383.3:c.880-26G>A NP_000374.1:n.880-26G>A
XM_011529551.1:c.880-29G>A XP_011527853.1:n.880-29G>A
NM_000383.4:c.880-26G>A MANE Select NP_000374.1:n.880-26G>A
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