Canonical Allele Identifier: CA410425057

Gene: AIRE

Linked Data

• gnomAD v4: 21-44292310-G-T
• MyVariant Identifiers: chr21:g.45712193G>T (hg19) ; chr21:g.44292310G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292310G>T , CM000683.2:g.44292310G>T	GRCh38
NC_000021.8:g.45712193G>T , CM000683.1:g.45712193G>T	GRCh37
NC_000021.7:g.44536621G>T	NCBI36
NG_009556.1:g.11431G>T , LRG_18:g.11431G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1004G>T MANE Select	ENSP00000291582.5:p.Trp335Leu
ENST00000291582.5:c.1004G>T	ENSP00000291582.5:p.Trp335Leu
ENST00000337909.5:n.465G>T
ENST00000397994.8:n.465G>T
ENST00000527919.5:n.1734G>T
ENST00000530812.5:n.2751G>T
NM_000383.3:c.1004G>T	NP_000374.1:p.Trp335Leu
XM_011529551.1:c.1001G>T	XP_011527853.1:p.Trp334Leu
NM_000383.4:c.1004G>T MANE Select	NP_000374.1:p.Trp335Leu