Canonical Allele Identifier: CA638116267

Gene: AIRE

Linked Data

• dbSNP Id: rs1230868463
• gnomAD v2: 21-45716345-C-T
• gnomAD v4: 21-44296462-C-T
• MyVariant Identifiers: chr21:g.45716345C>T (hg19) ; chr21:g.44296462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296462C>T , CM000683.2:g.44296462C>T	GRCh38
NC_000021.8:g.45716345C>T , CM000683.1:g.45716345C>T	GRCh37
NC_000021.7:g.44540773C>T	NCBI36
NG_009556.1:g.15583C>T , LRG_18:g.15583C>T
NG_034033.1:g.1429C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1566+17C>T MANE Select	ENSP00000291582.5:n.1566+17C>T
ENST00000291582.5:c.1566+17C>T	ENSP00000291582.5:n.1566+17C>T
ENST00000337909.5:n.1027+17C>T
ENST00000397994.8:n.945+17C>T
ENST00000527919.5:n.2325+17C>T
ENST00000530812.5:n.3313+17C>T
NM_000383.3:c.1566+17C>T	NP_000374.1:n.1566+17C>T
XM_011529551.1:c.1563+17C>T	XP_011527853.1:n.1563+17C>T
NM_000383.4:c.1566+17C>T MANE Select	NP_000374.1:n.1566+17C>T