Canonical Allele Identifier: CA410424580
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709673G>T (hg19) chr21:g.44289790G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289790G>T , CM000683.2:g.44289790G>T GRCh38
NC_000021.8:g.45709673G>T , CM000683.1:g.45709673G>T GRCh37
NC_000021.7:g.44534101G>T NCBI36
NG_009556.1:g.8911G>T , LRG_18:g.8911G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.786G>T MANE Select ENSP00000291582.5:p.Gln262His
ENST00000291582.5:c.786G>T ENSP00000291582.5:p.Gln262His
ENST00000527919.5:n.1519G>T
ENST00000530812.5:n.2536G>T
NM_000383.3:c.786G>T NP_000374.1:p.Gln262His
XM_011529551.1:c.786G>T XP_011527853.1:p.Gln262His
NM_000383.4:c.786G>T MANE Select NP_000374.1:p.Gln262His
Search 100 bp 5'
Search 100 bp 3'