Canonical Allele Identifier: CA512492206
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44294482-C-A
MyVariant Identifiers: chr21:g.45714365C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44294482C>A , CM000683.2:g.44294482C>A GRCh38
NC_000021.8:g.45714365C>A , CM000683.1:g.45714365C>A GRCh37
NC_000021.7:g.44538793C>A NCBI36
NG_009556.1:g.13603C>A , LRG_18:g.13603C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1482C>A MANE Select ENSP00000291582.5:p.Arg494=
ENST00000291582.5:c.1482C>A ENSP00000291582.5:p.Arg494=
ENST00000337909.5:n.943C>A
ENST00000397994.8:n.861C>A
ENST00000527919.5:n.2241C>A
ENST00000530812.5:n.3229C>A
NM_000383.3:c.1482C>A NP_000374.1:p.Arg494=
XM_011529551.1:c.1479C>A XP_011527853.1:p.Arg493=
NM_000383.4:c.1482C>A MANE Select NP_000374.1:p.Arg494=
Search 100 bp 5'
Search 100 bp 3'