Canonical Allele Identifier: CA2391565554
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040492523
gnomAD v4: 21-44287294-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287294C>T , CM000683.2:g.44287294C>T GRCh38
NC_000021.8:g.45707177C>T , CM000683.1:g.45707177C>T GRCh37
NC_000021.7:g.44531605C>T NCBI36
NG_009556.1:g.6415C>T , LRG_18:g.6415C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+161C>T MANE Select ENSP00000291582.5:n.463+161C>T
ENST00000291582.5:c.463+161C>T ENSP00000291582.5:n.463+161C>T
ENST00000527919.5:n.785C>T
ENST00000530812.5:n.793C>T
NM_000383.3:c.463+161C>T NP_000374.1:n.463+161C>T
XM_011529551.1:c.463+161C>T XP_011527853.1:n.463+161C>T
NM_000383.4:c.463+161C>T MANE Select NP_000374.1:n.463+161C>T
Search 100 bp 5'
Search 100 bp 3'