Canonical Allele Identifier: CA321787856
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs916642248

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287353G>A , CM000683.2:g.44287353G>A GRCh38
NC_000021.8:g.45707236G>A , CM000683.1:g.45707236G>A GRCh37
NC_000021.7:g.44531664G>A NCBI36
NG_009556.1:g.6474G>A , LRG_18:g.6474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.464-164G>A MANE Select ENSP00000291582.5:n.464-164G>A
ENST00000291582.5:c.464-164G>A ENSP00000291582.5:n.464-164G>A
ENST00000527919.5:n.844G>A
ENST00000530812.5:n.852G>A
NM_000383.3:c.464-164G>A NP_000374.1:n.464-164G>A
XM_011529551.1:c.464-164G>A XP_011527853.1:n.464-164G>A
NM_000383.4:c.464-164G>A MANE Select NP_000374.1:n.464-164G>A