Canonical Allele Identifier: CA2654790113
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288672-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288672A>T , CM000683.2:g.44288672A>T GRCh38
NC_000021.8:g.45708555A>T , CM000683.1:g.45708555A>T GRCh37
NC_000021.7:g.44532983A>T NCBI36
NG_009556.1:g.7793A>T , LRG_18:g.7793A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+214A>T MANE Select ENSP00000291582.5:n.652+214A>T
ENST00000291582.5:c.652+214A>T ENSP00000291582.5:n.652+214A>T
ENST00000527919.5:n.1196+214A>T
ENST00000530812.5:n.1418A>T
NM_000383.3:c.652+214A>T NP_000374.1:n.652+214A>T
XM_011529551.1:c.652+214A>T XP_011527853.1:n.652+214A>T
NM_000383.4:c.652+214A>T MANE Select NP_000374.1:n.652+214A>T
Search 100 bp 5'
Search 100 bp 3'