Canonical Allele Identifier: CA410426010

Gene: AIRE

Linked Data

• dbSNP Id: rs1406907168
• gnomAD v4: 21-44294487-C-T
• MyVariant Identifiers: chr21:g.45714370C>T (hg19) ; chr21:g.44294487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44294487C>T , CM000683.2:g.44294487C>T	GRCh38
NC_000021.8:g.45714370C>T , CM000683.1:g.45714370C>T	GRCh37
NC_000021.7:g.44538798C>T	NCBI36
NG_009556.1:g.13608C>T , LRG_18:g.13608C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1487C>T MANE Select	ENSP00000291582.5:p.Ala496Val
ENST00000291582.5:c.1487C>T	ENSP00000291582.5:p.Ala496Val
ENST00000337909.5:n.948C>T
ENST00000397994.8:n.866C>T
ENST00000527919.5:n.2246C>T
ENST00000530812.5:n.3234C>T
NM_000383.3:c.1487C>T	NP_000374.1:p.Ala496Val
XM_011529551.1:c.1484C>T	XP_011527853.1:p.Ala495Val
NM_000383.4:c.1487C>T MANE Select	NP_000374.1:p.Ala496Val