Canonical Allele Identifier: CA10051594
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1017041
ClinVar RCV Id: RCV001316132
dbSNP Id: rs375658223
ExAC: 21:45707463 C / T
gnomAD v2: 21-45707463-C-T
gnomAD v4: 21-44287580-C-T
MyVariant Identifiers: chr21:g.45707463C>T (hg19) chr21:g.44287580C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287580C>T , CM000683.2:g.44287580C>T GRCh38
NC_000021.8:g.45707463C>T , CM000683.1:g.45707463C>T GRCh37
NC_000021.7:g.44531891C>T NCBI36
NG_009556.1:g.6701C>T , LRG_18:g.6701C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.527C>T MANE Select ENSP00000291582.5:p.Pro176Leu
ENST00000291582.5:c.527C>T ENSP00000291582.5:p.Pro176Leu
ENST00000527919.5:n.1071C>T
ENST00000530812.5:n.1079C>T
NM_000383.3:c.527C>T NP_000374.1:p.Pro176Leu
XM_011529551.1:c.527C>T XP_011527853.1:p.Pro176Leu
NM_000383.4:c.527C>T MANE Select NP_000374.1:p.Pro176Leu
Search 100 bp 5'
Search 100 bp 3'