Canonical Allele Identifier: CA10051501
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2580373
ClinVar RCV Id: RCV003329568
dbSNP Id: rs770027594
ExAC: 21:45706549 T / C
gnomAD v2: 21-45706549-T-C
gnomAD v3: 21-44286666-T-C
gnomAD v4: 21-44286666-T-C
MyVariant Identifiers: chr21:g.45706549T>C (hg19) chr21:g.44286666T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286666T>C , CM000683.2:g.44286666T>C GRCh38
NC_000021.8:g.45706549T>C , CM000683.1:g.45706549T>C GRCh37
NC_000021.7:g.44530977T>C NCBI36
NG_009556.1:g.5787T>C , LRG_18:g.5787T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.242T>C MANE Select ENSP00000291582.5:p.Leu81Pro
ENST00000291582.5:c.242T>C ENSP00000291582.5:p.Leu81Pro
ENST00000527919.5:n.403T>C
ENST00000530812.5:n.411T>C
NM_000383.3:c.242T>C NP_000374.1:p.Leu81Pro
XM_011529551.1:c.242T>C XP_011527853.1:p.Leu81Pro
NM_000383.4:c.242T>C MANE Select NP_000374.1:p.Leu81Pro
Search 100 bp 5'
Search 100 bp 3'