Canonical Allele Identifier: CA2654789262
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287368C>T , CM000683.2:g.44287368C>T GRCh38
NC_000021.8:g.45707251C>T , CM000683.1:g.45707251C>T GRCh37
NC_000021.7:g.44531679C>T NCBI36
NG_009556.1:g.6489C>T , LRG_18:g.6489C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.464-149C>T MANE Select ENSP00000291582.5:n.464-149C>T
ENST00000291582.5:c.464-149C>T ENSP00000291582.5:n.464-149C>T
ENST00000527919.5:n.859C>T
ENST00000530812.5:n.867C>T
NM_000383.3:c.464-149C>T NP_000374.1:n.464-149C>T
XM_011529551.1:c.464-149C>T XP_011527853.1:n.464-149C>T
NM_000383.4:c.464-149C>T MANE Select NP_000374.1:n.464-149C>T