Canonical Allele Identifier: CA410425019

Gene: AIRE

Linked Data

• MyVariant Identifiers: chr21:g.45711089C>T (hg19) ; chr21:g.44291206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291206C>T , CM000683.2:g.44291206C>T	GRCh38
NC_000021.8:g.45711089C>T , CM000683.1:g.45711089C>T	GRCh37
NC_000021.7:g.44535517C>T	NCBI36
NG_009556.1:g.10327C>T , LRG_18:g.10327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.991C>T MANE Select	ENSP00000291582.5:p.Pro331Ser
ENST00000291582.5:c.991C>T	ENSP00000291582.5:p.Pro331Ser
ENST00000337909.5:n.452C>T
ENST00000397994.8:n.452C>T
ENST00000527919.5:n.1721C>T
ENST00000530812.5:n.2738C>T
NM_000383.3:c.991C>T	NP_000374.1:p.Pro331Ser
XM_011529551.1:c.988C>T	XP_011527853.1:p.Pro330Ser
NM_000383.4:c.991C>T MANE Select	NP_000374.1:p.Pro331Ser