Canonical Allele Identifier: CA512490659
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288346-G-T
MyVariant Identifiers: chr21:g.45708229G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288346G>T , CM000683.2:g.44288346G>T GRCh38
NC_000021.8:g.45708229G>T , CM000683.1:g.45708229G>T GRCh37
NC_000021.7:g.44532657G>T NCBI36
NG_009556.1:g.7467G>T , LRG_18:g.7467G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.540G>T MANE Select ENSP00000291582.5:p.Gly180=
ENST00000291582.5:c.540G>T ENSP00000291582.5:p.Gly180=
ENST00000527919.5:n.1084G>T
ENST00000530812.5:n.1092G>T
NM_000383.3:c.540G>T NP_000374.1:p.Gly180=
XM_011529551.1:c.540G>T XP_011527853.1:p.Gly180=
NM_000383.4:c.540G>T MANE Select NP_000374.1:p.Gly180=
Search 100 bp 5'
Search 100 bp 3'