Canonical Allele Identifier: CA10051708
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 583233
ClinVar RCV Id: RCV000707516
dbSNP Id: rs775896896
ExAC: 21:45709681 C / T
gnomAD v2: 21-45709681-C-T
gnomAD v3: 21-44289798-C-T
gnomAD v4: 21-44289798-C-T
MyVariant Identifiers: chr21:g.45709681C>T (hg19) chr21:g.44289798C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289798C>T , CM000683.2:g.44289798C>T GRCh38
NC_000021.8:g.45709681C>T , CM000683.1:g.45709681C>T GRCh37
NC_000021.7:g.44534109C>T NCBI36
NG_009556.1:g.8919C>T , LRG_18:g.8919C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.794C>T MANE Select ENSP00000291582.5:p.Ala265Val
ENST00000291582.5:c.794C>T ENSP00000291582.5:p.Ala265Val
ENST00000527919.5:n.1527C>T
ENST00000530812.5:n.2544C>T
NM_000383.3:c.794C>T NP_000374.1:p.Ala265Val
XM_011529551.1:c.794C>T XP_011527853.1:p.Ala265Val
NM_000383.4:c.794C>T MANE Select NP_000374.1:p.Ala265Val
Search 100 bp 5'
Search 100 bp 3'