Canonical Allele Identifier: CA410425053

Gene: AIRE

Linked Data

• gnomAD v4: 21-44292309-T-C
• MyVariant Identifiers: chr21:g.45712192T>C (hg19) ; chr21:g.44292309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292309T>C , CM000683.2:g.44292309T>C	GRCh38
NC_000021.8:g.45712192T>C , CM000683.1:g.45712192T>C	GRCh37
NC_000021.7:g.44536620T>C	NCBI36
NG_009556.1:g.11430T>C , LRG_18:g.11430T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1003T>C MANE Select	ENSP00000291582.5:p.Trp335Arg
ENST00000291582.5:c.1003T>C	ENSP00000291582.5:p.Trp335Arg
ENST00000337909.5:n.464T>C
ENST00000397994.8:n.464T>C
ENST00000527919.5:n.1733T>C
ENST00000530812.5:n.2750T>C
NM_000383.3:c.1003T>C	NP_000374.1:p.Trp335Arg
XM_011529551.1:c.1000T>C	XP_011527853.1:p.Trp334Arg
NM_000383.4:c.1003T>C MANE Select	NP_000374.1:p.Trp335Arg