Canonical Allele Identifier: CA10051650
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 370839
ClinVar RCV Id: RCV000409920
dbSNP Id: rs199612115

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288459G>T , CM000683.2:g.44288459G>T GRCh38
NC_000021.8:g.45708342G>T , CM000683.1:g.45708342G>T GRCh37
NC_000021.7:g.44532770G>T NCBI36
NG_009556.1:g.7580G>T , LRG_18:g.7580G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.652+1G>T MANE Select ENSP00000291582.5:n.652+1G>T
ENST00000291582.5:c.652+1G>T ENSP00000291582.5:n.652+1G>T
ENST00000527919.5:n.1196+1G>T
ENST00000530812.5:n.1205G>T
NM_000383.3:c.652+1G>T NP_000374.1:n.652+1G>T
XM_011529551.1:c.652+1G>T XP_011527853.1:n.652+1G>T
NM_000383.4:c.652+1G>T MANE Select NP_000374.1:n.652+1G>T