Canonical Allele Identifier: CA1022714243
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1381386671
gnomAD v3: 21-44288844-C-A
gnomAD v4: 21-44288844-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288844C>A , CM000683.2:g.44288844C>A GRCh38
NC_000021.8:g.45708727C>A , CM000683.1:g.45708727C>A GRCh37
NC_000021.7:g.44533155C>A NCBI36
NG_009556.1:g.7965C>A , LRG_18:g.7965C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+386C>A MANE Select ENSP00000291582.5:n.652+386C>A
ENST00000291582.5:c.652+386C>A ENSP00000291582.5:n.652+386C>A
ENST00000527919.5:n.1197-384C>A
ENST00000530812.5:n.1590C>A
NM_000383.3:c.652+386C>A NP_000374.1:n.652+386C>A
XM_011529551.1:c.652+386C>A XP_011527853.1:n.652+386C>A
NM_000383.4:c.652+386C>A MANE Select NP_000374.1:n.652+386C>A
Search 100 bp 5'
Search 100 bp 3'