Canonical Allele Identifier: CA410426057

Gene: AIRE

Linked Data

• MyVariant Identifiers: chr21:g.45716266G>T (hg19) ; chr21:g.44296383G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296383G>T , CM000683.2:g.44296383G>T	GRCh38
NC_000021.8:g.45716266G>T , CM000683.1:g.45716266G>T	GRCh37
NC_000021.7:g.44540694G>T	NCBI36
NG_009556.1:g.15504G>T , LRG_18:g.15504G>T
NG_034033.1:g.1350G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1504G>T MANE Select	ENSP00000291582.5:p.Asp502Tyr
ENST00000291582.5:c.1504G>T	ENSP00000291582.5:p.Asp502Tyr
ENST00000337909.5:n.965G>T
ENST00000397994.8:n.883G>T
ENST00000527919.5:n.2263G>T
ENST00000530812.5:n.3251G>T
NM_000383.3:c.1504G>T	NP_000374.1:p.Asp502Tyr
XM_011529551.1:c.1501G>T	XP_011527853.1:p.Asp501Tyr
NM_000383.4:c.1504G>T MANE Select	NP_000374.1:p.Asp502Tyr