Canonical Allele Identifier: CA2654796105

Gene: AIRE

Linked Data

• gnomAD v4: 21-44296257-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296257G>T , CM000683.2:g.44296257G>T	GRCh38
NC_000021.8:g.45716140G>T , CM000683.1:g.45716140G>T	GRCh37
NC_000021.7:g.44540568G>T	NCBI36
NG_009556.1:g.15378G>T , LRG_18:g.15378G>T
NG_034033.1:g.1224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1504-126G>T MANE Select	ENSP00000291582.5:n.1504-126G>T
ENST00000291582.5:c.1504-126G>T	ENSP00000291582.5:n.1504-126G>T
ENST00000337909.5:n.965-126G>T
ENST00000397994.8:n.883-126G>T
ENST00000527919.5:n.2263-126G>T
ENST00000530812.5:n.3251-126G>T
NM_000383.3:c.1504-126G>T	NP_000374.1:n.1504-126G>T
XM_011529551.1:c.1501-126G>T	XP_011527853.1:n.1501-126G>T
NM_000383.4:c.1504-126G>T MANE Select	NP_000374.1:n.1504-126G>T