Canonical Allele Identifier: CA219199
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 68221
ClinVar RCV Id: RCV000059055
dbSNP Id: rs179363881
MyVariant Identifiers: chr21:g.45706545G>T (hg19) chr21:g.44286662G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286662G>T , CM000683.2:g.44286662G>T GRCh38
NC_000021.8:g.45706545G>T , CM000683.1:g.45706545G>T GRCh37
NC_000021.7:g.44530973G>T NCBI36
NG_009556.1:g.5783G>T , LRG_18:g.5783G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.238G>T MANE Select ENSP00000291582.5:p.Val80Leu
ENST00000291582.5:c.238G>T ENSP00000291582.5:p.Val80Leu
ENST00000527919.5:n.399G>T
ENST00000530812.5:n.407G>T
NM_000383.3:c.238G>T NP_000374.1:p.Val80Leu
XM_011529551.1:c.238G>T XP_011527853.1:p.Val80Leu
NM_000383.4:c.238G>T MANE Select NP_000374.1:p.Val80Leu
Search 100 bp 5'
Search 100 bp 3'