Canonical Allele Identifier: CA2654792949
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44290162-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290162G>A , CM000683.2:g.44290162G>A GRCh38
NC_000021.8:g.45710045G>A , CM000683.1:g.45710045G>A GRCh37
NC_000021.7:g.44534473G>A NCBI36
NG_009556.1:g.9283G>A , LRG_18:g.9283G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+94G>A MANE Select ENSP00000291582.5:n.879+94G>A
ENST00000291582.5:c.879+94G>A ENSP00000291582.5:n.879+94G>A
ENST00000527919.5:n.1612+94G>A
ENST00000530812.5:n.2629+94G>A
NM_000383.3:c.879+94G>A NP_000374.1:n.879+94G>A
XM_011529551.1:c.879+94G>A XP_011527853.1:n.879+94G>A
NM_000383.4:c.879+94G>A MANE Select NP_000374.1:n.879+94G>A
Search 100 bp 5'
Search 100 bp 3'