Canonical Allele Identifier: CA512490776
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1424250755
MyVariant Identifiers: chr21:g.45708337G>A (hg19) chr21:g.44288454G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288454G>A , CM000683.2:g.44288454G>A GRCh38
NC_000021.8:g.45708337G>A , CM000683.1:g.45708337G>A GRCh37
NC_000021.7:g.44532765G>A NCBI36
NG_009556.1:g.7575G>A , LRG_18:g.7575G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.648G>A MANE Select ENSP00000291582.5:p.Glu216=
ENST00000291582.5:c.648G>A ENSP00000291582.5:p.Glu216=
ENST00000527919.5:n.1192G>A
ENST00000530812.5:n.1200G>A
NM_000383.3:c.648G>A NP_000374.1:p.Glu216=
XM_011529551.1:c.648G>A XP_011527853.1:p.Glu216=
NM_000383.4:c.648G>A MANE Select NP_000374.1:p.Glu216=
Search 100 bp 5'
Search 100 bp 3'