Canonical Allele Identifier: CA638116261
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1290290848
gnomAD v2: 21-45716247-T-A
MyVariant Identifiers: chr21:g.45716247T>A (hg19) chr21:g.44296364T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296364T>A , CM000683.2:g.44296364T>A GRCh38
NC_000021.8:g.45716247T>A , CM000683.1:g.45716247T>A GRCh37
NC_000021.7:g.44540675T>A NCBI36
NG_009556.1:g.15485T>A , LRG_18:g.15485T>A
NG_034033.1:g.1331T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1504-19T>A MANE Select ENSP00000291582.5:n.1504-19T>A
ENST00000291582.5:c.1504-19T>A ENSP00000291582.5:n.1504-19T>A
ENST00000337909.5:n.965-19T>A
ENST00000397994.8:n.883-19T>A
ENST00000527919.5:n.2263-19T>A
ENST00000530812.5:n.3251-19T>A
NM_000383.3:c.1504-19T>A NP_000374.1:n.1504-19T>A
XM_011529551.1:c.1501-19T>A XP_011527853.1:n.1501-19T>A
NM_000383.4:c.1504-19T>A MANE Select NP_000374.1:n.1504-19T>A
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