Canonical Allele Identifier: CA10051748
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs778148534
ExAC: 21:45709913 G / T
gnomAD v2: 21-45709913-G-T
MyVariant Identifiers: chr21:g.45709913G>T (hg19) chr21:g.44290030G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290030G>T , CM000683.2:g.44290030G>T GRCh38
NC_000021.8:g.45709913G>T , CM000683.1:g.45709913G>T GRCh37
NC_000021.7:g.44534341G>T NCBI36
NG_009556.1:g.9151G>T , LRG_18:g.9151G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.841G>T MANE Select ENSP00000291582.5:p.Ala281Ser
ENST00000291582.5:c.841G>T ENSP00000291582.5:p.Ala281Ser
ENST00000527919.5:n.1574G>T
ENST00000530812.5:n.2591G>T
NM_000383.3:c.841G>T NP_000374.1:p.Ala281Ser
XM_011529551.1:c.841G>T XP_011527853.1:p.Ala281Ser
NM_000383.4:c.841G>T MANE Select NP_000374.1:p.Ala281Ser
Search 100 bp 5'
Search 100 bp 3'