Canonical Allele Identifier: CA10051574
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs758527824
ExAC: 21:45707056 C / A
gnomAD v2: 21-45707056-C-A
gnomAD v3: 21-44287173-C-A
gnomAD v4: 21-44287173-C-A
MyVariant Identifiers: chr21:g.45707056C>A (hg19) chr21:g.44287173C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287173C>A , CM000683.2:g.44287173C>A GRCh38
NC_000021.8:g.45707056C>A , CM000683.1:g.45707056C>A GRCh37
NC_000021.7:g.44531484C>A NCBI36
NG_009556.1:g.6294C>A , LRG_18:g.6294C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+40C>A MANE Select ENSP00000291582.5:n.463+40C>A
ENST00000291582.5:c.463+40C>A ENSP00000291582.5:n.463+40C>A
ENST00000527919.5:n.664C>A
ENST00000530812.5:n.672C>A
NM_000383.3:c.463+40C>A NP_000374.1:n.463+40C>A
XM_011529551.1:c.463+40C>A XP_011527853.1:n.463+40C>A
NM_000383.4:c.463+40C>A MANE Select NP_000374.1:n.463+40C>A
Search 100 bp 5'
Search 100 bp 3'