Canonical Allele Identifier: CA2739741927

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290873C>A , CM000683.2:g.44290873C>A	GRCh38
NC_000021.8:g.45710756C>A , CM000683.1:g.45710756C>A	GRCh37
NC_000021.7:g.44535184C>A	NCBI36
NG_009556.1:g.9994C>A , LRG_18:g.9994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-222C>A MANE Select	ENSP00000291582.5:n.880-222C>A
ENST00000291582.5:c.880-222C>A	ENSP00000291582.5:n.880-222C>A
ENST00000337909.5:n.119C>A
ENST00000397994.8:n.119C>A
ENST00000527919.5:n.1613-225C>A
ENST00000530812.5:n.2630-225C>A
NM_000383.3:c.880-222C>A	NP_000374.1:n.880-222C>A
XM_011529551.1:c.880-225C>A	XP_011527853.1:n.880-225C>A
NM_000383.4:c.880-222C>A MANE Select	NP_000374.1:n.880-222C>A