Canonical Allele Identifier: CA321793301
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1800520
gnomAD v4: 21-44290023-C-A
MyVariant Identifiers: chr21:g.45709906C>A (hg19) chr21:g.44290023C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290023C>A , CM000683.2:g.44290023C>A GRCh38
NC_000021.8:g.45709906C>A , CM000683.1:g.45709906C>A GRCh37
NC_000021.7:g.44534334C>A NCBI36
NG_009556.1:g.9144C>A , LRG_18:g.9144C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.834C>A MANE Select ENSP00000291582.5:p.Ser278Arg
ENST00000291582.5:c.834C>A ENSP00000291582.5:p.Ser278Arg
ENST00000527919.5:n.1567C>A
ENST00000530812.5:n.2584C>A
NM_000383.3:c.834C>A NP_000374.1:p.Ser278Arg
XM_011529551.1:c.834C>A XP_011527853.1:p.Ser278Arg
NM_000383.4:c.834C>A MANE Select NP_000374.1:p.Ser278Arg
Search 100 bp 5'
Search 100 bp 3'