Canonical Allele Identifier: CA410423411

Gene: AIRE

Linked Data

• MyVariant Identifiers: chr21:g.45706541G>T (hg19) ; chr21:g.44286658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44286658G>T , CM000683.2:g.44286658G>T	GRCh38
NC_000021.8:g.45706541G>T , CM000683.1:g.45706541G>T	GRCh37
NC_000021.7:g.44530969G>T	NCBI36
NG_009556.1:g.5779G>T , LRG_18:g.5779G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.234G>T MANE Select	ENSP00000291582.5:p.Trp78Cys
ENST00000291582.5:c.234G>T	ENSP00000291582.5:p.Trp78Cys
ENST00000527919.5:n.395G>T
ENST00000530812.5:n.403G>T
NM_000383.3:c.234G>T	NP_000374.1:p.Trp78Cys
XM_011529551.1:c.234G>T	XP_011527853.1:p.Trp78Cys
NM_000383.4:c.234G>T MANE Select	NP_000374.1:p.Trp78Cys