Canonical Allele Identifier: CA2568643593

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292256C>T , CM000683.2:g.44292256C>T	GRCh38
NC_000021.8:g.45712139C>T , CM000683.1:g.45712139C>T	GRCh37
NC_000021.7:g.44536567C>T	NCBI36
NG_009556.1:g.11377C>T , LRG_18:g.11377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.996-46C>T MANE Select	ENSP00000291582.5:n.996-46C>T
ENST00000291582.5:c.996-46C>T	ENSP00000291582.5:n.996-46C>T
ENST00000337909.5:n.457-46C>T
ENST00000397994.8:n.457-46C>T
ENST00000527919.5:n.1726-46C>T
ENST00000530812.5:n.2743-46C>T
NM_000383.3:c.996-46C>T	NP_000374.1:n.996-46C>T
XM_011529551.1:c.993-46C>T	XP_011527853.1:n.993-46C>T
NM_000383.4:c.996-46C>T MANE Select	NP_000374.1:n.996-46C>T