Canonical Allele Identifier: CA10052195

Gene: AIRE

Linked Data

• dbSNP Id: rs752306669
• ExAC: 21:45716368 C / G
• gnomAD v2: 21-45716368-C-G
• gnomAD v4: 21-44296485-C-G
• MyVariant Identifiers: chr21:g.45716368C>G (hg19) ; chr21:g.44296485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296485C>G , CM000683.2:g.44296485C>G	GRCh38
NC_000021.8:g.45716368C>G , CM000683.1:g.45716368C>G	GRCh37
NC_000021.7:g.44540796C>G	NCBI36
NG_009556.1:g.15606C>G , LRG_18:g.15606C>G
NG_034033.1:g.1452C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1566+40C>G MANE Select	ENSP00000291582.5:n.1566+40C>G
ENST00000291582.5:c.1566+40C>G	ENSP00000291582.5:n.1566+40C>G
ENST00000337909.5:n.1027+40C>G
ENST00000397994.8:n.945+40C>G
ENST00000527919.5:n.2325+40C>G
ENST00000530812.5:n.3313+40C>G
NM_000383.3:c.1566+40C>G	NP_000374.1:n.1566+40C>G
XM_011529551.1:c.1563+40C>G	XP_011527853.1:n.1563+40C>G
NM_000383.4:c.1566+40C>G MANE Select	NP_000374.1:n.1566+40C>G