Canonical Allele Identifier: CA512491031
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709673G>A (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.786G>A MANE Select ENSP00000291582.5:p.Gln262=
ENST00000291582.5:c.786G>A ENSP00000291582.5:p.Gln262=
ENST00000527919.5:n.1519G>A
ENST00000530812.5:n.2536G>A
NM_000383.3:c.786G>A NP_000374.1:p.Gln262=
XM_011529551.1:c.786G>A XP_011527853.1:p.Gln262=
NM_000383.4:c.786G>A MANE Select NP_000374.1:p.Gln262=
Search 100 bp 5'
Search 100 bp 3'