Canonical Allele Identifier: CA410424689
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2504735
ClinVar RCV Id: RCV003234326

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290027C>T , CM000683.2:g.44290027C>T GRCh38
NC_000021.8:g.45709910C>T , CM000683.1:g.45709910C>T GRCh37
NC_000021.7:g.44534338C>T NCBI36
NG_009556.1:g.9148C>T , LRG_18:g.9148C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.838C>T MANE Select ENSP00000291582.5:p.Pro280Ser
ENST00000291582.5:c.838C>T ENSP00000291582.5:p.Pro280Ser
ENST00000527919.5:n.1571C>T
ENST00000530812.5:n.2588C>T
NM_000383.3:c.838C>T NP_000374.1:p.Pro280Ser
XM_011529551.1:c.838C>T XP_011527853.1:p.Pro280Ser
NM_000383.4:c.838C>T MANE Select NP_000374.1:p.Pro280Ser