Canonical Allele Identifier: CA410424447
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1945744
ClinVar RCV Id: RCV002680889
dbSNP Id: rs1260665653
gnomAD v2: 21-45709609-G-T
gnomAD v4: 21-44289726-G-T
COSMIC: COSM6435152
MyVariant Identifiers: chr21:g.45709609G>T (hg19) chr21:g.44289726G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289726G>T , CM000683.2:g.44289726G>T GRCh38
NC_000021.8:g.45709609G>T , CM000683.1:g.45709609G>T GRCh37
NC_000021.7:g.44534037G>T NCBI36
NG_009556.1:g.8847G>T , LRG_18:g.8847G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.722G>T MANE Select ENSP00000291582.5:p.Ser241Ile
ENST00000291582.5:c.722G>T ENSP00000291582.5:p.Ser241Ile
ENST00000527919.5:n.1455G>T
ENST00000530812.5:n.2472G>T
NM_000383.3:c.722G>T NP_000374.1:p.Ser241Ile
XM_011529551.1:c.722G>T XP_011527853.1:p.Ser241Ile
NM_000383.4:c.722G>T MANE Select NP_000374.1:p.Ser241Ile
Search 100 bp 5'
Search 100 bp 3'