Canonical Allele Identifier: CA2737593764
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040506505
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288813A>T , CM000683.2:g.44288813A>T GRCh38
NC_000021.8:g.45708696A>T , CM000683.1:g.45708696A>T GRCh37
NC_000021.7:g.44533124A>T NCBI36
NG_009556.1:g.7934A>T , LRG_18:g.7934A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+355A>T MANE Select ENSP00000291582.5:n.652+355A>T
ENST00000291582.5:c.652+355A>T ENSP00000291582.5:n.652+355A>T
ENST00000527919.5:n.1196+355A>T
ENST00000530812.5:n.1559A>T
NM_000383.3:c.652+355A>T NP_000374.1:n.652+355A>T
XM_011529551.1:c.652+355A>T XP_011527853.1:n.652+355A>T
NM_000383.4:c.652+355A>T MANE Select NP_000374.1:n.652+355A>T
Search 100 bp 5'
Search 100 bp 3'