Canonical Allele Identifier: CA410423285

Gene: AIRE

Linked Data

• MyVariant Identifiers: chr21:g.45706480C>T (hg19) ; chr21:g.44286597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44286597C>T , CM000683.2:g.44286597C>T	GRCh38
NC_000021.8:g.45706480C>T , CM000683.1:g.45706480C>T	GRCh37
NC_000021.7:g.44530908C>T	NCBI36
NG_009556.1:g.5718C>T , LRG_18:g.5718C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.173C>T MANE Select	ENSP00000291582.5:p.Ala58Val
ENST00000291582.5:c.173C>T	ENSP00000291582.5:p.Ala58Val
ENST00000527919.5:n.334C>T
ENST00000530812.5:n.342C>T
NM_000383.3:c.173C>T	NP_000374.1:p.Ala58Val
XM_011529551.1:c.173C>T	XP_011527853.1:p.Ala58Val
NM_000383.4:c.173C>T MANE Select	NP_000374.1:p.Ala58Val