Canonical Allele Identifier: CA2654790237
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288815-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288815C>T , CM000683.2:g.44288815C>T GRCh38
NC_000021.8:g.45708698C>T , CM000683.1:g.45708698C>T GRCh37
NC_000021.7:g.44533126C>T NCBI36
NG_009556.1:g.7936C>T , LRG_18:g.7936C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+357C>T MANE Select ENSP00000291582.5:n.652+357C>T
ENST00000291582.5:c.652+357C>T ENSP00000291582.5:n.652+357C>T
ENST00000527919.5:n.1196+357C>T
ENST00000530812.5:n.1561C>T
NM_000383.3:c.652+357C>T NP_000374.1:n.652+357C>T
XM_011529551.1:c.652+357C>T XP_011527853.1:n.652+357C>T
NM_000383.4:c.652+357C>T MANE Select NP_000374.1:n.652+357C>T
Search 100 bp 5'
Search 100 bp 3'