Canonical Allele Identifier: CA512490246
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2771003
ClinVar RCV Id: RCV003522837
MyVariant Identifiers: chr21:g.45706592C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286709C>T , CM000683.2:g.44286709C>T GRCh38
NC_000021.8:g.45706592C>T , CM000683.1:g.45706592C>T GRCh37
NC_000021.7:g.44531020C>T NCBI36
NG_009556.1:g.5830C>T , LRG_18:g.5830C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.285C>T MANE Select ENSP00000291582.5:p.Pro95=
ENST00000291582.5:c.285C>T ENSP00000291582.5:p.Pro95=
ENST00000527919.5:n.446C>T
ENST00000530812.5:n.454C>T
NM_000383.3:c.285C>T NP_000374.1:p.Pro95=
XM_011529551.1:c.285C>T XP_011527853.1:p.Pro95=
NM_000383.4:c.285C>T MANE Select NP_000374.1:p.Pro95=
Search 100 bp 5'
Search 100 bp 3'