Canonical Allele Identifier: CA512490193
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2739406
ClinVar RCV Id: RCV003523495
MyVariant Identifiers: chr21:g.45706547G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286664G>A , CM000683.2:g.44286664G>A GRCh38
NC_000021.8:g.45706547G>A , CM000683.1:g.45706547G>A GRCh37
NC_000021.7:g.44530975G>A NCBI36
NG_009556.1:g.5785G>A , LRG_18:g.5785G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.240G>A MANE Select ENSP00000291582.5:p.Val80=
ENST00000291582.5:c.240G>A ENSP00000291582.5:p.Val80=
ENST00000527919.5:n.401G>A
ENST00000530812.5:n.409G>A
NM_000383.3:c.240G>A NP_000374.1:p.Val80=
XM_011529551.1:c.240G>A XP_011527853.1:p.Val80=
NM_000383.4:c.240G>A MANE Select NP_000374.1:p.Val80=
Search 100 bp 5'
Search 100 bp 3'