Canonical Allele Identifier: CA10051638
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 528306
ClinVar RCV Id: RCV000633441
dbSNP Id: rs754331960
ExAC: 21:45708289 G / A
gnomAD v2: 21-45708289-G-A
gnomAD v3: 21-44288406-G-A
gnomAD v4: 21-44288406-G-A
MyVariant Identifiers: chr21:g.45708289G>A (hg19) chr21:g.44288406G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288406G>A , CM000683.2:g.44288406G>A GRCh38
NC_000021.8:g.45708289G>A , CM000683.1:g.45708289G>A GRCh37
NC_000021.7:g.44532717G>A NCBI36
NG_009556.1:g.7527G>A , LRG_18:g.7527G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.600G>A MANE Select ENSP00000291582.5:p.Pro200=
ENST00000291582.5:c.600G>A ENSP00000291582.5:p.Pro200=
ENST00000527919.5:n.1144G>A
ENST00000530812.5:n.1152G>A
NM_000383.3:c.600G>A NP_000374.1:p.Pro200=
XM_011529551.1:c.600G>A XP_011527853.1:p.Pro200=
NM_000383.4:c.600G>A MANE Select NP_000374.1:p.Pro200=
Search 100 bp 5'
Search 100 bp 3'