Canonical Allele Identifier: CA638115942

Gene: AIRE

Linked Data

• dbSNP Id: rs776581217
• gnomAD v2: 21-45710745-G-T
• gnomAD v4: 21-44290862-G-T
• MyVariant Identifiers: chr21:g.45710745G>T (hg19) ; chr21:g.44290862G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290862G>T , CM000683.2:g.44290862G>T	GRCh38
NC_000021.8:g.45710745G>T , CM000683.1:g.45710745G>T	GRCh37
NC_000021.7:g.44535173G>T	NCBI36
NG_009556.1:g.9983G>T , LRG_18:g.9983G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-233G>T MANE Select	ENSP00000291582.5:n.880-233G>T
ENST00000291582.5:c.880-233G>T	ENSP00000291582.5:n.880-233G>T
ENST00000337909.5:n.108G>T
ENST00000397994.8:n.108G>T
ENST00000527919.5:n.1613-236G>T
ENST00000530812.5:n.2630-236G>T
NM_000383.3:c.880-233G>T	NP_000374.1:n.880-233G>T
XM_011529551.1:c.880-236G>T	XP_011527853.1:n.880-236G>T
NM_000383.4:c.880-233G>T MANE Select	NP_000374.1:n.880-233G>T