Canonical Allele Identifier: CA2654790154
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288716-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288716T>C , CM000683.2:g.44288716T>C GRCh38
NC_000021.8:g.45708599T>C , CM000683.1:g.45708599T>C GRCh37
NC_000021.7:g.44533027T>C NCBI36
NG_009556.1:g.7837T>C , LRG_18:g.7837T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+258T>C MANE Select ENSP00000291582.5:n.652+258T>C
ENST00000291582.5:c.652+258T>C ENSP00000291582.5:n.652+258T>C
ENST00000527919.5:n.1196+258T>C
ENST00000530812.5:n.1462T>C
NM_000383.3:c.652+258T>C NP_000374.1:n.652+258T>C
XM_011529551.1:c.652+258T>C XP_011527853.1:n.652+258T>C
NM_000383.4:c.652+258T>C MANE Select NP_000374.1:n.652+258T>C
Search 100 bp 5'
Search 100 bp 3'