Canonical Allele Identifier: CA2391568041
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292131G= , CM000683.2:g.44292131G= GRCh38
NC_000021.8:g.45712014G= , CM000683.1:g.45712014G= GRCh37
NC_000021.7:g.44536442G= NCBI36
NG_009556.1:g.11252G= , LRG_18:g.11252G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.996-171G= MANE Select ENSP00000291582.5:n.996-171G=
ENST00000291582.5:c.996-171G= ENSP00000291582.5:n.996-171G=
ENST00000337909.5:n.457-171G=
ENST00000397994.8:n.457-171G=
ENST00000527919.5:n.1726-171G=
ENST00000530812.5:n.2743-171G=
NM_000383.3:c.996-171G= NP_000374.1:n.996-171G=
XM_011529551.1:c.993-171G= XP_011527853.1:n.993-171G=
NM_000383.4:c.996-171G= MANE Select NP_000374.1:n.996-171G=