Canonical Allele Identifier: CA512491320

Gene: AIRE

Linked Data

• gnomAD v4: 21-44291178-C-T
• MyVariant Identifiers: chr21:g.45711061C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291178C>T , CM000683.2:g.44291178C>T	GRCh38
NC_000021.8:g.45711061C>T , CM000683.1:g.45711061C>T	GRCh37
NC_000021.7:g.44535489C>T	NCBI36
NG_009556.1:g.10299C>T , LRG_18:g.10299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.963C>T MANE Select	ENSP00000291582.5:p.Ala321=
ENST00000291582.5:c.963C>T	ENSP00000291582.5:p.Ala321=
ENST00000337909.5:n.424C>T
ENST00000397994.8:n.424C>T
ENST00000527919.5:n.1693C>T
ENST00000530812.5:n.2710C>T
NM_000383.3:c.963C>T	NP_000374.1:p.Ala321=
XM_011529551.1:c.960C>T	XP_011527853.1:p.Ala320=
NM_000383.4:c.963C>T MANE Select	NP_000374.1:p.Ala321=