Canonical Allele Identifier: CA2654790202
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288775-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288775T>A , CM000683.2:g.44288775T>A GRCh38
NC_000021.8:g.45708658T>A , CM000683.1:g.45708658T>A GRCh37
NC_000021.7:g.44533086T>A NCBI36
NG_009556.1:g.7896T>A , LRG_18:g.7896T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+317T>A MANE Select ENSP00000291582.5:n.652+317T>A
ENST00000291582.5:c.652+317T>A ENSP00000291582.5:n.652+317T>A
ENST00000527919.5:n.1196+317T>A
ENST00000530812.5:n.1521T>A
NM_000383.3:c.652+317T>A NP_000374.1:n.652+317T>A
XM_011529551.1:c.652+317T>A XP_011527853.1:n.652+317T>A
NM_000383.4:c.652+317T>A MANE Select NP_000374.1:n.652+317T>A
Search 100 bp 5'
Search 100 bp 3'