Canonical Allele Identifier: CA2577620078

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292224G>T , CM000683.2:g.44292224G>T	GRCh38
NC_000021.8:g.45712107G>T , CM000683.1:g.45712107G>T	GRCh37
NC_000021.7:g.44536535G>T	NCBI36
NG_009556.1:g.11345G>T , LRG_18:g.11345G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.996-78G>T MANE Select	ENSP00000291582.5:n.996-78G>T
ENST00000291582.5:c.996-78G>T	ENSP00000291582.5:n.996-78G>T
ENST00000337909.5:n.457-78G>T
ENST00000397994.8:n.457-78G>T
ENST00000527919.5:n.1726-78G>T
ENST00000530812.5:n.2743-78G>T
NM_000383.3:c.996-78G>T	NP_000374.1:n.996-78G>T
XM_011529551.1:c.993-78G>T	XP_011527853.1:n.993-78G>T
NM_000383.4:c.996-78G>T MANE Select	NP_000374.1:n.996-78G>T