Canonical Allele Identifier: CA410424358

Gene: AIRE

Linked Data

• gnomAD v4: 21-44289687-G-T
• MyVariant Identifiers: chr21:g.45709570G>T (hg19) ; chr21:g.44289687G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289687G>T , CM000683.2:g.44289687G>T	GRCh38
NC_000021.8:g.45709570G>T , CM000683.1:g.45709570G>T	GRCh37
NC_000021.7:g.44533998G>T	NCBI36
NG_009556.1:g.8808G>T , LRG_18:g.8808G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.683G>T MANE Select	ENSP00000291582.5:p.Gly228Val
ENST00000291582.5:c.683G>T	ENSP00000291582.5:p.Gly228Val
ENST00000527919.5:n.1416G>T
ENST00000530812.5:n.2433G>T
NM_000383.3:c.683G>T	NP_000374.1:p.Gly228Val
XM_011529551.1:c.683G>T	XP_011527853.1:p.Gly228Val
NM_000383.4:c.683G>T MANE Select	NP_000374.1:p.Gly228Val