Canonical Allele Identifier: CA410423492

Gene: AIRE

Linked Data

• MyVariant Identifiers: chr21:g.45706581C>G (hg19) ; chr21:g.44286698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44286698C>G , CM000683.2:g.44286698C>G	GRCh38
NC_000021.8:g.45706581C>G , CM000683.1:g.45706581C>G	GRCh37
NC_000021.7:g.44531009C>G	NCBI36
NG_009556.1:g.5819C>G , LRG_18:g.5819C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.274C>G MANE Select	ENSP00000291582.5:p.Arg92Gly
ENST00000291582.5:c.274C>G	ENSP00000291582.5:p.Arg92Gly
ENST00000527919.5:n.435C>G
ENST00000530812.5:n.443C>G
NM_000383.3:c.274C>G	NP_000374.1:p.Arg92Gly
XM_011529551.1:c.274C>G	XP_011527853.1:p.Arg92Gly
NM_000383.4:c.274C>G MANE Select	NP_000374.1:p.Arg92Gly