Canonical Allele Identifier: CA410423220
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1372044313
gnomAD v4: 21-44286568-T-G
MyVariant Identifiers: chr21:g.45706451T>G (hg19) chr21:g.44286568T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286568T>G , CM000683.2:g.44286568T>G GRCh38
NC_000021.8:g.45706451T>G , CM000683.1:g.45706451T>G GRCh37
NC_000021.7:g.44530879T>G NCBI36
NG_009556.1:g.5689T>G , LRG_18:g.5689T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.144T>G MANE Select ENSP00000291582.5:p.His48Gln
ENST00000291582.5:c.144T>G ENSP00000291582.5:p.His48Gln
ENST00000527919.5:n.305T>G
ENST00000530812.5:n.313T>G
NM_000383.3:c.144T>G NP_000374.1:p.His48Gln
XM_011529551.1:c.144T>G XP_011527853.1:p.His48Gln
NM_000383.4:c.144T>G MANE Select NP_000374.1:p.His48Gln
Search 100 bp 5'
Search 100 bp 3'